Materiały źródłowe

• #1 Alkaptonuria – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1454/

  Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. […] The biochemical diagnosis of alkaptonuria in a proband is based on the detection of a significant amount of HGA in the urine (usually 1 to 8 grams per day). […] The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. […] No consensus clinical diagnostic criteria for alkaptonuria have been published. […] Alkaptonuria should be suspected in individuals with the following clinical findings and family history. […] The biochemical diagnosis of alkaptonuria is established in a proband with suggestive clinical findings and a significant amount of homogentisic acid (HGA) in a urine sample detected by gas chromatography-mass spectrometry analysis or liquid chromatography tandem mass spectrometry. […] The molecular diagnosis of alkaptonuria is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in HGD identified by molecular genetic testing.

• #2 Alkaptonuria Disease: Symptoms, Causes and Treatment

  https://tap.health/how-to-diagnose-alkaptonuria-urine-analysis-and-genetic-testing/

  Alkaptonuria, also known as Black Urine Disease, is a rare inherited metabolic disorder characterized by the accumulation of a pigment called homogentisic acid (HGA) in various body tissues. […] Diagnosing Alkaptonuria typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. A thorough medical history review and physical examination can provide valuable insights, particularly when characteristic symptoms manifest. […] Urine analysis is a crucial diagnostic tool for Alkaptonuria. Specialized tests, such as gas chromatography-mass spectrometry, can detect the presence of homogentisic acid (HGA). Elevated levels of HGA in the urine can be a key indicator of Alkaptonuria. Furthermore, the analysis of urine samples may also reveal the presence of dark pigmentation, a hallmark of this rare genetic disorder.

• #3 Alkaptonuria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560571/

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] Identify the gold standard diagnostic test to diagnose alkaptonuria. […] The urine test for HGA is the gold-standard test to diagnose alkaptonuria. The amount of homogentisic acid in the 24-hour urine is detected via gas chromatography-mass spectrometry (GC-MS) analysis. […] The diagnosis and evaluation of AKU can be established based on the severity scoring system.

• #4 Alkaptonuria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560571/

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] Identify the gold standard diagnostic test to diagnose alkaptonuria. […] The urine test for HGA is the gold-standard test to diagnose alkaptonuria. The amount of homogentisic acid in the 24-hour urine is detected via gas chromatography-mass spectrometry (GC-MS) analysis. […] The diagnosis and evaluation of AKU can be established based on the severity scoring system.

• #5 Alkaptonuria – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1454/

  Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. […] The biochemical diagnosis of alkaptonuria in a proband is based on the detection of a significant amount of HGA in the urine (usually 1 to 8 grams per day). […] The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. […] No consensus clinical diagnostic criteria for alkaptonuria have been published. […] Alkaptonuria should be suspected in individuals with the following clinical findings and family history. […] The biochemical diagnosis of alkaptonuria is established in a proband with suggestive clinical findings and a significant amount of homogentisic acid (HGA) in a urine sample detected by gas chromatography-mass spectrometry analysis or liquid chromatography tandem mass spectrometry. […] The molecular diagnosis of alkaptonuria is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in HGD identified by molecular genetic testing.

• #6 Alkaptonuria – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1454/

  Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. […] The biochemical diagnosis of alkaptonuria in a proband is based on the detection of a significant amount of HGA in the urine (usually 1 to 8 grams per day). […] The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. […] No consensus clinical diagnostic criteria for alkaptonuria have been published. […] Alkaptonuria should be suspected in individuals with the following clinical findings and family history. […] The biochemical diagnosis of alkaptonuria is established in a proband with suggestive clinical findings and a significant amount of homogentisic acid (HGA) in a urine sample detected by gas chromatography-mass spectrometry analysis or liquid chromatography tandem mass spectrometry. […] The molecular diagnosis of alkaptonuria is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in HGD identified by molecular genetic testing.

• #7 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Alkaptonuria.aspx

  Alkaptonuria is diagnosed by detecting HGA in urine using gas chromatography-mass spectrometry, and is confirmed by genetic testing to identify a recessive mutation on the HGD gene. […] Regular monitoring is necessary to identify the presence of aortic dilatation, valve disease, and coronary calcification. This may require various imaging techniques. […] Family screening and early intervention may help reduce or prevent complications in other relatives.

• #8 Alkaptonuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/alkaptonuria/

  Alkaptonuria is diagnosed based on the detection of a significant amount of HGA in a 24 hour sample of urine. Normal HGA levels in a 24 hour sample is 20-30 mg. Individuals with Alkaptonuria excrete between 1-8 grams of HGA in their urine in one day. […] Genetic testing is available to look for changes in the HGD gene, but it is not required for diagnosis. […] Diagnostic testing for Alkaptonuria is most accurate using HGA levels in urine. Genetic testing can be performed, and is recommended to start with sequence analysis first, which has a detection rate of 90%. Carrier testing is not accurate using urine analysis. Carrier testing and prenatal diagnosis can only be done using genetic testing. The causative mutations in the affected family member must be identified first for accurate carrier screening and prenatal diagnosis.

• #9 Alkaptonuria – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1454/

  Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. […] The biochemical diagnosis of alkaptonuria in a proband is based on the detection of a significant amount of HGA in the urine (usually 1 to 8 grams per day). […] The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. […] No consensus clinical diagnostic criteria for alkaptonuria have been published. […] Alkaptonuria should be suspected in individuals with the following clinical findings and family history. […] The biochemical diagnosis of alkaptonuria is established in a proband with suggestive clinical findings and a significant amount of homogentisic acid (HGA) in a urine sample detected by gas chromatography-mass spectrometry analysis or liquid chromatography tandem mass spectrometry. […] The molecular diagnosis of alkaptonuria is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in HGD identified by molecular genetic testing.

• #10 Alkaptonuria: Causes, Symptoms and Diagnosis

  https://www.healthline.com/health/alkaptonuria

  Your doctor may suspect you have alkaptonuria if your urine turns dark brown or black when its exposed to air. […] They may also test you for the condition if you develop early onset osteoarthritis. […] Your doctor can use a test called gas chromatography to look for traces of homogentisic acid in your urine. […] They can also use DNA testing to check for the mutated HGD gene. […] Family history is very useful in making a diagnosis of alkaptonuria.

• #11 Alkaptonuria – UF Health

  https://ufhealth.org/conditions-and-treatments/alkaptonuria

  A urine test is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine black in people with this condition. […] A blood test can be done to see if you carry the gene for alkaptonuria. […] Prenatal tests (amniocentesis or chorionic villus sampling) can be done to screen a developing baby for this condition if the genetic change has been identified.

• #12 Alkaptonuria: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001200.htm

  A urine test is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine black in people with this condition. […] Contact your health care provider if you notice that your own urine or your child’s urine becomes dark brown or black when it is exposed to air. […] A blood test can be done to see if you carry the gene for alkaptonuria. […] Prenatal tests (amniocentesis or chorionic villus sampling) can be done to screen a developing baby for this condition if the genetic change has been identified.

• #13 Orphanet: Alkaptonuria

  https://www.orpha.net/en/disease/detail/56

  Diagnosis is suspected upon clinical examination and is based on the amount of HGA found in the urine using gas chromatography-mass spectroscopy. […] As many patients present without dark urine, it may be advisable to look for HGA in all patients with radiographic evidence of osteoarthritis. […] Genetic testing confirms the diagnosis.

• #14 Alkaptonuria (Black Urine Disease) Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/941530-workup

  In patients with alkaptonuria, homogentisic acid can be identified in urine using gas chromatography mass spectroscopy. Spectrophotometric quantitation shows 2 orders of magnitude elevations above normal. […] Because many patients present without dark urine, looking for homogentisate in all patients with radiographic evidence of osteoarthritis may be advisable. […] After DNA extraction from whole blood, screening for mutations can be performed with polymerase chain reaction (PCR) technique.

• #15 Alkaptonuria – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1454/

  Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. […] The biochemical diagnosis of alkaptonuria in a proband is based on the detection of a significant amount of HGA in the urine (usually 1 to 8 grams per day). […] The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. […] No consensus clinical diagnostic criteria for alkaptonuria have been published. […] Alkaptonuria should be suspected in individuals with the following clinical findings and family history. […] The biochemical diagnosis of alkaptonuria is established in a proband with suggestive clinical findings and a significant amount of homogentisic acid (HGA) in a urine sample detected by gas chromatography-mass spectrometry analysis or liquid chromatography tandem mass spectrometry. […] The molecular diagnosis of alkaptonuria is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in HGD identified by molecular genetic testing.

• #16 Alkaptonuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/alkaptonuria/

  Alkaptonuria is diagnosed based on the detection of a significant amount of HGA in a 24 hour sample of urine. Normal HGA levels in a 24 hour sample is 20-30 mg. Individuals with Alkaptonuria excrete between 1-8 grams of HGA in their urine in one day. […] Genetic testing is available to look for changes in the HGD gene, but it is not required for diagnosis. […] Diagnostic testing for Alkaptonuria is most accurate using HGA levels in urine. Genetic testing can be performed, and is recommended to start with sequence analysis first, which has a detection rate of 90%. Carrier testing is not accurate using urine analysis. Carrier testing and prenatal diagnosis can only be done using genetic testing. The causative mutations in the affected family member must be identified first for accurate carrier screening and prenatal diagnosis.

• #17 Orphanet: Alkaptonuria

  https://www.orpha.net/en/disease/detail/56

  Diagnosis is suspected upon clinical examination and is based on the amount of HGA found in the urine using gas chromatography-mass spectroscopy. […] As many patients present without dark urine, it may be advisable to look for HGA in all patients with radiographic evidence of osteoarthritis. […] Genetic testing confirms the diagnosis.

• #18 Alkaptonuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/alkaptonuria/

  Alkaptonuria is diagnosed based on the detection of a significant amount of HGA in a 24 hour sample of urine. Normal HGA levels in a 24 hour sample is 20-30 mg. Individuals with Alkaptonuria excrete between 1-8 grams of HGA in their urine in one day. […] Genetic testing is available to look for changes in the HGD gene, but it is not required for diagnosis. […] Diagnostic testing for Alkaptonuria is most accurate using HGA levels in urine. Genetic testing can be performed, and is recommended to start with sequence analysis first, which has a detection rate of 90%. Carrier testing is not accurate using urine analysis. Carrier testing and prenatal diagnosis can only be done using genetic testing. The causative mutations in the affected family member must be identified first for accurate carrier screening and prenatal diagnosis.

• #19 Alkaptonuria (Black Urine Disease) Workup: Laboratory Studies, Imaging Studies, Other Tests

  https://emedicine.medscape.com/article/941530-workup

  In patients with alkaptonuria, homogentisic acid can be identified in urine using gas chromatography mass spectroscopy. Spectrophotometric quantitation shows 2 orders of magnitude elevations above normal. […] Because many patients present without dark urine, looking for homogentisate in all patients with radiographic evidence of osteoarthritis may be advisable. […] After DNA extraction from whole blood, screening for mutations can be performed with polymerase chain reaction (PCR) technique.

• #20 Alkaptonuria | PPT

  https://www.slideshare.net/slideshow/alkaptonuria-114077798/114077798

  Alkaptonuria is a rare inherited disorder caused by a defect in the HGD gene, resulting in a build up of homogentisic acid (HGA) in the body. […] The condition is diagnosed through urine and genetic tests. […] Urine test – addition of ferric chloride to the urine will change its color to black. Gas chromatography to look for traces of HGA in urine. DNA testing – to check for mutated HGD gene. It is generally done by analyzing blood sample. Prenatal tests (amniocentesis or chorionic villus sampling) can be done to screen a developing baby for this condition if the genetic change has been identified. […] Testing for alkaptonuria involves adding ferric chloride to urine samples.

• #21 Alkaptonuria – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1454/

  Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. […] The biochemical diagnosis of alkaptonuria in a proband is based on the detection of a significant amount of HGA in the urine (usually 1 to 8 grams per day). […] The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. […] No consensus clinical diagnostic criteria for alkaptonuria have been published. […] Alkaptonuria should be suspected in individuals with the following clinical findings and family history. […] The biochemical diagnosis of alkaptonuria is established in a proband with suggestive clinical findings and a significant amount of homogentisic acid (HGA) in a urine sample detected by gas chromatography-mass spectrometry analysis or liquid chromatography tandem mass spectrometry. […] The molecular diagnosis of alkaptonuria is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in HGD identified by molecular genetic testing.

• #22 Alkaptonuria – ThinkGenetic Foundation

  https://thinkgenetic.org/diseases/alkaptonuria/

  Alkaptonuria is diagnosed based on the detection of a significant amount of HGA in a 24 hour sample of urine. Normal HGA levels in a 24 hour sample is 20-30 mg. Individuals with Alkaptonuria excrete between 1-8 grams of HGA in their urine in one day. […] Genetic testing is available to look for changes in the HGD gene, but it is not required for diagnosis. […] Diagnostic testing for Alkaptonuria is most accurate using HGA levels in urine. Genetic testing can be performed, and is recommended to start with sequence analysis first, which has a detection rate of 90%. Carrier testing is not accurate using urine analysis. Carrier testing and prenatal diagnosis can only be done using genetic testing. The causative mutations in the affected family member must be identified first for accurate carrier screening and prenatal diagnosis.

• #23 Alkaptonuria: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001200.htm

  A urine test is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine black in people with this condition. […] Contact your health care provider if you notice that your own urine or your child’s urine becomes dark brown or black when it is exposed to air. […] A blood test can be done to see if you carry the gene for alkaptonuria. […] Prenatal tests (amniocentesis or chorionic villus sampling) can be done to screen a developing baby for this condition if the genetic change has been identified.

• #24 Alkaptonuria – UF Health

  https://ufhealth.org/conditions-and-treatments/alkaptonuria

  A urine test is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine black in people with this condition. […] A blood test can be done to see if you carry the gene for alkaptonuria. […] Prenatal tests (amniocentesis or chorionic villus sampling) can be done to screen a developing baby for this condition if the genetic change has been identified.

• #25 Alkaptonuria – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1454/

  Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. […] The biochemical diagnosis of alkaptonuria in a proband is based on the detection of a significant amount of HGA in the urine (usually 1 to 8 grams per day). […] The molecular diagnosis (needed to provide genetic counseling to family members) is based on identification of biallelic pathogenic variants in HGD. […] No consensus clinical diagnostic criteria for alkaptonuria have been published. […] Alkaptonuria should be suspected in individuals with the following clinical findings and family history. […] The biochemical diagnosis of alkaptonuria is established in a proband with suggestive clinical findings and a significant amount of homogentisic acid (HGA) in a urine sample detected by gas chromatography-mass spectrometry analysis or liquid chromatography tandem mass spectrometry. […] The molecular diagnosis of alkaptonuria is established in a proband with suggestive findings and biallelic pathogenic (or likely pathogenic) variants in HGD identified by molecular genetic testing.

• #26 Alkaptonuria: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001200.htm

  A urine test is done to test for alkaptonuria. If ferric chloride is added to the urine, it will turn the urine black in people with this condition. […] Contact your health care provider if you notice that your own urine or your child’s urine becomes dark brown or black when it is exposed to air. […] A blood test can be done to see if you carry the gene for alkaptonuria. […] Prenatal tests (amniocentesis or chorionic villus sampling) can be done to screen a developing baby for this condition if the genetic change has been identified.

• #27 Alkaptonuria: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/alkaptonuria/

  Alkaptonuria is an inherited condition that causes arthritis, kidney stones, spots of dark pigmentation, and dark urine. […] The first symptom of alkaptonuria is often urine that turns black or very dark when it is exposed to air (oxidation). […] The body removes the excess pigment in urine. However, removing the large pigment deposits found in people with alkaptonuria can put strain on the kidneys, and this can lead to kidney (renal) failure. […] With appropriate medical management, people with alkaptonuria generally have a normal life expectancy. […] Alkaptonuria is rare, affecting 1 in 250,000 to 1 million people in the United States. […] Variants (also called mutations) in the HGD gene cause alkaptonuria. […] Excess homogentisic acid is also excreted in urine, making urine turn dark when exposed to air. […] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. […] Genetic Testing Registry: Alkaptonuria.

• #28 Alkaptonuria: Causes, Symptoms and Diagnosis

  https://www.healthline.com/health/alkaptonuria

  Your doctor may suspect you have alkaptonuria if your urine turns dark brown or black when its exposed to air. […] They may also test you for the condition if you develop early onset osteoarthritis. […] Your doctor can use a test called gas chromatography to look for traces of homogentisic acid in your urine. […] They can also use DNA testing to check for the mutated HGD gene. […] Family history is very useful in making a diagnosis of alkaptonuria.

• #29 From darkening urine to early diagnosis of alkaptonuria – Indian Journal of Dermatology, Venereology and Leprology

  https://ijdvl.com/from-darkening-urine-to-early-diagnosis-of-alkaptonuria/

  Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. […] Darkening of urine is the only sign of the disorder in the pediatric age group, and it occurs at very early stage of the disorder, as reported by the parents. […] A diagnosis of alkaptonuria was made on the basis of the bluish black discoloration of the sclera, black-colored urine upon standing, and detection of homogentisic acid in the urine. […] The diagnosis is confirmed by measurement of homogentisic acid in urine. […] Diagnosis in our case was made on the basis of the presence of the triad of ochronotic pigmentation of sclera, urine which turns black upon alkalization, and detection of homogentisic acid in the urine.

• #30 Alkaptonuria – Physical Diagnosis PDX

  https://physicaldiagnosispdx.com/hereditary-conditions-2/alkaptonuria/

  A rare autosomal recessive condition that results in the accumulation of homogentisic acid in the blood and tissues. The classic finding is darkening of the urine when it is left exposed to open air, but other physical manifestations include hyperpigmentation of cartilaginous structures like the ear, as well as the sclera and corneal limbus of the eye. […] Alkaptonuria (ochronosis) was the first human disorder that was recognized to follow the Mendelian pattern of autosomal recessive inheritance.

• #31 Alkaptonuria: Causes, Symptoms and Diagnosis

  https://www.healthline.com/health/alkaptonuria

  Your doctor may suspect you have alkaptonuria if your urine turns dark brown or black when its exposed to air. […] They may also test you for the condition if you develop early onset osteoarthritis. […] Your doctor can use a test called gas chromatography to look for traces of homogentisic acid in your urine. […] They can also use DNA testing to check for the mutated HGD gene. […] Family history is very useful in making a diagnosis of alkaptonuria.

• #32 PARE0010 Alkaptonuria: An Old Disorder with a Late Diagnosis | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/74/Suppl_2/1361.2

  Alkaptonuria (AKU) is the first genetic metabolic disorder following an autosomal recessive pattern of inheritance, identified by Sir Achibald Edward Garrod (1). […] To evaluate the age at which AKU patients have been diagnosed, since on the basis of our experience the highest number of the adults received the exact diagnosis of AKU only late in age, after a long way looking for a resolution of their pain problems. […] The mean age of the patient was 50.117.3. Only 5 of them were diagnosed at the birth, the majority of the others (15) received the diagnosis between 40 and 58 years. […] Although the age of the diagnosis is decreased in the new century, too many people suffer without knowing to be affected by AKU. We hope the rheumatologists will play attention in considering AKU in their diagnosis and share the information with their colleagues like pediatricians, orthopedists, etc.

• #33 Alkaptonuria | Doctor

  https://patient.info/doctor/alkaptonuria.htm

  It may be identified in infancy because nappies stain black but very often this is overlooked or ignored. The diagnosis should, however, always be borne in mind in children with darkening urine, as it may be the only sign of the condition and early treatment may prevent the onset of many complications. […] Chromatographic examination of urine. This is the standard diagnostic test. Homogentisic acid can be identified using gas chromatography-mass spectroscopy. Plasma can also be used. There are reducing substances but not glucose present. […] If the disease is diagnosed in infancy, attempts are made to reduce progression. There have been no controlled trials but it is reasonable to restrict protein in the diet to reduce tyrosine and phenylalanine. The value of persisting with this regime into adulthood is dubious. […] Testing for carriers with a tyrosine load may give results but, as some have 50% of normal enzyme activity, it is unsatisfactory.

• #34 From darkening urine to early diagnosis of alkaptonuria – Indian Journal of Dermatology, Venereology and Leprology

  https://ijdvl.com/from-darkening-urine-to-early-diagnosis-of-alkaptonuria/

  Alkaptonuria is a rare disorder of metabolism characterized by deficiency of homogentisic acid oxidase. […] Darkening of urine is the only sign of the disorder in the pediatric age group, and it occurs at very early stage of the disorder, as reported by the parents. […] A diagnosis of alkaptonuria was made on the basis of the bluish black discoloration of the sclera, black-colored urine upon standing, and detection of homogentisic acid in the urine. […] The diagnosis is confirmed by measurement of homogentisic acid in urine. […] Diagnosis in our case was made on the basis of the presence of the triad of ochronotic pigmentation of sclera, urine which turns black upon alkalization, and detection of homogentisic acid in the urine.

• #35 PARE0010 Alkaptonuria: An Old Disorder with a Late Diagnosis | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/74/Suppl_2/1361.2

  Alkaptonuria (AKU) is the first genetic metabolic disorder following an autosomal recessive pattern of inheritance, identified by Sir Achibald Edward Garrod (1). […] To evaluate the age at which AKU patients have been diagnosed, since on the basis of our experience the highest number of the adults received the exact diagnosis of AKU only late in age, after a long way looking for a resolution of their pain problems. […] The mean age of the patient was 50.117.3. Only 5 of them were diagnosed at the birth, the majority of the others (15) received the diagnosis between 40 and 58 years. […] Although the age of the diagnosis is decreased in the new century, too many people suffer without knowing to be affected by AKU. We hope the rheumatologists will play attention in considering AKU in their diagnosis and share the information with their colleagues like pediatricians, orthopedists, etc.

• #36 Alkaptonuria | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17363

  Alkaptonuria is one of a rare autosomal recessive genetic disorder, which results from the deficiency of homogentisate 1,2 dioxygenase (HGD). […] The diagnosis and evaluation of AKU can be established based on the severity scoring system. […] The urine test for HGA is the gold-standard test to diagnose alkaptonuria. The amount of homogentisic acid in the 24-hour urine is detected via gas chromatography-mass spectrometry (GC-MS) analysis. […] Molecular genetic testing can identify the biallelic abnormalities in HGD and other mutations that can help in family counseling. […] Various imaging modalities like CT scan or MRI help in assessing the severity of joint involvement. […] 2D-Echocardiography can detect valvular abnormalities. […] Despite being one of the first discovered genetic disorders that are supposed to follow Mendelian law, to date, there is no effective treatment for AKU.

• #37 How Is Alkaptonuria Managed?

  https://www.icliniq.com/articles/kidney-and-urologic-diseases/alkaptonuria

  Blood Tests: […] Homogentisic Acid Levels: Elevated levels of homogentisic acid can also be detected in the blood, though urine testing is more common and more reliable for diagnosis. […] Radiological Examination: […] X-rays and MRI: Imaging studies may show characteristic signs of ochronotic arthropathy, such as calcification of intervertebral discs and joint spaces, particularly in the spine and larger joints. […] Other Laboratory Tests: […] Synovial Fluid Analysis: In cases of joint involvement, analysis of the synovial fluid from affected joints can sometimes reveal the presence of ochronotic pigments. […] […] […] How Do One Understand If Their Condition Is Alkaptonuria? […] Doctors usually diagnose the condition based on the signs and symptoms the patient reports. One primary symptom that helps diagnose this condition is a change in urine color when exposed to air.

• #38 Black Heart at Surgery – Primary Diagnosis of Alkaptonuria at Surgery – MedCrave online

  https://medcraveonline.com/JCCR/black-heart-at-surgery—primary-diagnosis-of-alkaptonuria-at-surgery.html

  Cardiovascular disease can have a significant impact on patients and thus if patients are diagnosed there is growing consensus that they require echocardiographic screening after the age of 40 to detect valvular heart disease and cardiac gated CT to assess coronary artery calcification. […] Although cardiac ochronosis is a rare clinical presentation, surgeons should be aware of it as they might be confronted with it as in our case during surgery.

• #39 Alkaptonuria | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17363

  Alkaptonuria is one of a rare autosomal recessive genetic disorder, which results from the deficiency of homogentisate 1,2 dioxygenase (HGD). […] The diagnosis and evaluation of AKU can be established based on the severity scoring system. […] The urine test for HGA is the gold-standard test to diagnose alkaptonuria. The amount of homogentisic acid in the 24-hour urine is detected via gas chromatography-mass spectrometry (GC-MS) analysis. […] Molecular genetic testing can identify the biallelic abnormalities in HGD and other mutations that can help in family counseling. […] Various imaging modalities like CT scan or MRI help in assessing the severity of joint involvement. […] 2D-Echocardiography can detect valvular abnormalities. […] Despite being one of the first discovered genetic disorders that are supposed to follow Mendelian law, to date, there is no effective treatment for AKU.

• #40 Black Heart at Surgery – Primary Diagnosis of Alkaptonuria at Surgery – MedCrave online

  https://medcraveonline.com/JCCR/black-heart-at-surgery—primary-diagnosis-of-alkaptonuria-at-surgery.html

  Cardiovascular disease can have a significant impact on patients and thus if patients are diagnosed there is growing consensus that they require echocardiographic screening after the age of 40 to detect valvular heart disease and cardiac gated CT to assess coronary artery calcification. […] Although cardiac ochronosis is a rare clinical presentation, surgeons should be aware of it as they might be confronted with it as in our case during surgery.

• #41 Alkaptonuria – MyBioSource Learning Center

  https://www.mybiosource.com/learn/alkaptonuria/

  The diagnosis is based on the symptoms, evaluation of the patients medical history and consists of a variety of tests. […] Commonly, the identification of homogentisic acid in the urine can be indicative of this condition although not all cases are presented with dark urine. […] The genetic testing can detect the mutation in the gene responsible for alkaptonuria. […] People affected with this condition over the age of 40 may be recommended to have echocardiography to identify abnormalities of the heart. […] A CT scan can detect complications such as coronary artery calcification.

• #42 Diagnosis of secondary amyloidosis in alkaptonuria | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-014-0185-9

  Alkaptonuria (AKU) is an inborn error of catabolism due to a deficient activity of homogentisate 1,2-dioxygenase. […] We found secondary amyloidosis as a life-threatening complication in AKU, thus opening new perspectives for its treatment. […] Owing to the progressive and intractable condition, it seems important to detect amyloid deposits at an early phase in AKU and the choice of specimens for a correct diagnosis is crucial. […] Amyloid was detected in only one abdominal fat pad specimen. However, all subjects demonstrated amyloid deposition in salivary glands and in other organ biopsies, indicating salivary gland as the ideal specimen for early amyloid detection in AKU. […] This is, at the best of our knowledge, the first report providing correct indications on the diagnosis of amyloidosis in AKU, thus offering the possibility of treatment of such co-morbidity to AKU patients.

• #43 Diagnosis of secondary amyloidosis in alkaptonuria | Diagnostic Pathology | Full Text

  https://diagnosticpathology.biomedcentral.com/articles/10.1186/s13000-014-0185-9

  Therefore, SAA amyloidosis should be diagnosed as early as possible and the clinicians treating AKU patients need an easy routine reproducible fast procedure that can be repeated at intervals. […] These results further support the concept that LSG may be the optimal specimen for early detection of amyloid in AKU and that LSG offers improved sensitivity in respect to fat pad aspirates in these patients. […] In all ten AKU samples, amyloid deposits were identified so underlining the high sensitivity of LSG biopsy in the diagnosis of amyloidosis, even in the absence of other symptoms. […] LSG biopsy appears as a simple and safe method to detect generalized amyloidosis in patients with a chronic inflammatory disease such as AKU. […] This suggests that subclinical amyloid deposition may be more easily detected on oral biopsies, and the oral cavity may be the preferred biopsy site for detecting amyloid deposition in AKU patients with no symptoms of systemic amyloidosis. […] Our study suggests that minor LSG, especially when the biopsy of affected are lacking, may be the gold standard for the diagnosis of SAA amyloidosis in AKU.

• #44 Alkaptonuria – Wikipedia

  https://en.wikipedia.org/wiki/Alkaptonuria

  If the diagnosis of alkaptonuria is suspected, it can be confirmed or excluded by collecting urine for 24 hours and determining the amount of homogentisic acid by means of chromatography. No assay of HGA in blood has been validated. […] The severity of the symptoms and response to treatment can be quantified through a validated questionnaire titled the AKU Severity Score Index. This assigns scores to the presence of particular symptoms and features, such as the presence of eye and skin pigmentation, joint pain, heart problems, and organ stones.

• #45 Alkaptonuria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560571/

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] Identify the gold standard diagnostic test to diagnose alkaptonuria. […] The urine test for HGA is the gold-standard test to diagnose alkaptonuria. The amount of homogentisic acid in the 24-hour urine is detected via gas chromatography-mass spectrometry (GC-MS) analysis. […] The diagnosis and evaluation of AKU can be established based on the severity scoring system.

• #46 Alkaptonuria – Wikipedia

  https://en.wikipedia.org/wiki/Alkaptonuria

  If the diagnosis of alkaptonuria is suspected, it can be confirmed or excluded by collecting urine for 24 hours and determining the amount of homogentisic acid by means of chromatography. No assay of HGA in blood has been validated. […] The severity of the symptoms and response to treatment can be quantified through a validated questionnaire titled the AKU Severity Score Index. This assigns scores to the presence of particular symptoms and features, such as the presence of eye and skin pigmentation, joint pain, heart problems, and organ stones.

• #47 Alkaptonuria – Wikipedia

  https://en.wikipedia.org/wiki/Alkaptonuria

  If the diagnosis of alkaptonuria is suspected, it can be confirmed or excluded by collecting urine for 24 hours and determining the amount of homogentisic acid by means of chromatography. No assay of HGA in blood has been validated. […] The severity of the symptoms and response to treatment can be quantified through a validated questionnaire titled the AKU Severity Score Index. This assigns scores to the presence of particular symptoms and features, such as the presence of eye and skin pigmentation, joint pain, heart problems, and organ stones.

• #48 Alkaptonuria – Wikipedia

  https://en.wikipedia.org/wiki/Alkaptonuria

  If the diagnosis of alkaptonuria is suspected, it can be confirmed or excluded by collecting urine for 24 hours and determining the amount of homogentisic acid by means of chromatography. No assay of HGA in blood has been validated. […] The severity of the symptoms and response to treatment can be quantified through a validated questionnaire titled the AKU Severity Score Index. This assigns scores to the presence of particular symptoms and features, such as the presence of eye and skin pigmentation, joint pain, heart problems, and organ stones.

• #49 Alkaptonuria – Wikipedia

  https://en.wikipedia.org/wiki/Alkaptonuria

  If the diagnosis of alkaptonuria is suspected, it can be confirmed or excluded by collecting urine for 24 hours and determining the amount of homogentisic acid by means of chromatography. No assay of HGA in blood has been validated. […] The severity of the symptoms and response to treatment can be quantified through a validated questionnaire titled the AKU Severity Score Index. This assigns scores to the presence of particular symptoms and features, such as the presence of eye and skin pigmentation, joint pain, heart problems, and organ stones.

• #50 Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis | BMJ Case Reports

  https://casereports.bmj.com/content/17/12/e262395

  Alkaptonuria is a rare inherited disease resulting from a genetic variant leading to homogentisic acid accumulation in body tissues, causing a broad spectrum of symptoms. […] This case highlights the importance of holistic assessments, recognition of familial symptom patterns and early identification of key clinical indicators for rare disease diagnosis. […] The comprehensive mapping of symptoms associated with alkaptonuria has been initiated and is currently underway within the Liverpool Database. This systematic effort aims to collect and document a wide range of clinical manifestations and associated data, contributing to a deeper understanding of the disease and its multiorgan impact. […] The regulation of alkaptonuria involves a combined approach, including both dietary and medical interventions.

• #51 Alkaptonuria: Causes, Symptoms, and Treatment Methods | DocHospitals

  https://dochospitals.com/en/alkaptonuria-atc1324/

  Physical examination, patient history and various tests should be performed to diagnose alkaptonuria. Urinalysis is the most commonly used method. When alkaptonuria is suspected, the patient is asked to collect urine for 24 hours. The diagnosis is made by examining the amount of homogentisic acid in the urine. […] Since alkaptonuria is a genetic disorder, genetic testing is performed to identify the presence of a recessive mutation in the HGD gene. Genetic testing is important to make a definitive diagnosis. X-rays or other imaging methods are used to examine bone and joint findings. Various scoring systems are also used to evaluate clinical findings.

• #52 Alkaptonuria – DoveMed

  https://www.dovemed.com/diseases-conditions/alkaptonuria

  Although the disorder is present since birth, many people with AKU are not diagnosed until they are in their 30s to 40s, when defining symptoms arise […] The diagnosis of Alkaptonuria may involve: […] A urine test is performed to diagnose Alkaptonuria. Ferric chloride is added to the urine sample, which turns to black color, if the affected individual has Alkaptonuria […] Urinalysis to detect homogentisic acid using gas chromatography […] Molecular DNA testing to detect mutations in the HGD gene […] Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

• #53 Blue palms and nails: A clue to diagnosis of alkaptonuria – Indian Journal of Dermatology, Venereology and Leprology

  https://ijdvl.com/blue-palms-and-nails-a-clue-to-diagnosis-of-alkaptonuria/

  Alkaptonuria is a rare autosomal recessive disorder of the tyrosine metabolism pathway caused by deficiency in the enzyme homogentisate-1, 2-dioxygenase. […] Based on the history and clinical findings, alkaptonuria and heavy metal toxicity were considered in the differentials. […] Thus, based on the clinical and laboratory findings, the final diagnosis of alkaptonuria was made and the patient was advised oral ascorbic acid, low-protein diet, and sodium bicarbonate 250 mg, nifedipine 5 mg, and analgesics (sos) for renal and joint symptoms. […] Pigmentation of the skin over palms and soles and nails in the presence of arthropathy and nephropathy should raise a suspicion of alkaptonuria and simple alkalinization of the urine can lead to a diagnosis in resource-poor settings. […] In our patient, alkalinization of urine with sodium bicarbonate resulted in symptomatic improvement.

• #54 Alkaptonuria: Symptoms, Causes, Treatment

  https://www.medicoverhospitals.in/diseases/alkaptonuria/

  Diagnosing Alkaptonuria is often based on clinical symptoms and confirmed through various diagnostic tests. […] One of the hallmark symptoms of alkaptonuria is the darkening of urine when exposed to air. This is due to the oxidation of homogentisic acid. […] To confirm a diagnosis of alkaptonuria, healthcare providers may use several tests: […] Diagnosis of alkaptonuria is often based on clinical symptoms and confirmed through various diagnostic tests. […] Diagnosed via genetic tests and detection of homogentisic acid in urine.

• #55 Alkaptonuria: Causes, Symptoms & Treatment Options

  https://sehathub.com/alkaptonuria

  Diagnosing alkaptonuria involves a comprehensive evaluation that takes into account unique symptoms, a detailed patient medical history, a meticulous clinical examination, and specialized diagnostic tests. […] This is a fundamental diagnostic step where urine samples are analyzed to detect the presence of homogentisic acid, a key marker of alkaptonuria. Homogentisic acid levels in a 24-hour urine sample are measured using gas chromatography-mass spectrometry (GC-MS) analysis. […] Various imaging techniques can be employed to assess the impact of alkaptonuria on different body systems. […] In some cases, a histopathological examination of affected tissues or organs may be necessary. This involves microscopic analysis of tissue samples to confirm the presence of alkaptonuria-related changes.

• #56 Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review – IJCBR

  https://www.ijcbr.in/html-article/12257

  Alkaptonuria is a rare error in tyrosine metabolism. […] Lack of local expertise and difficulty in detection of AKU has been expressed in literature. […] Objective of this technical review is to provide simple, quick and precise chemical methods with reagent and technical details so as to detect HGA in urine at every primary health care setups to pick up AKU at early age. […] Present technical review explains eight precise, time tested, simple and effective chemical methods. […] Aim of this paper is to provide comprehensive technical details of methods with reagent preparations so that any primary health centres or small labs can be able to detect positive sample with confidence and contribute to the diagnosis of rare disease. […] Biochemical tests performed towards diagnosis of AKU disorder are hard core chemical tests based on reducing nature of HGA or oxidative polymerization of HGA.

• #57 Alkaptonuria | Doctor

  https://patient.info/doctor/alkaptonuria.htm

  It may be identified in infancy because nappies stain black but very often this is overlooked or ignored. The diagnosis should, however, always be borne in mind in children with darkening urine, as it may be the only sign of the condition and early treatment may prevent the onset of many complications. […] Chromatographic examination of urine. This is the standard diagnostic test. Homogentisic acid can be identified using gas chromatography-mass spectroscopy. Plasma can also be used. There are reducing substances but not glucose present. […] If the disease is diagnosed in infancy, attempts are made to reduce progression. There have been no controlled trials but it is reasonable to restrict protein in the diet to reduce tyrosine and phenylalanine. The value of persisting with this regime into adulthood is dubious. […] Testing for carriers with a tyrosine load may give results but, as some have 50% of normal enzyme activity, it is unsatisfactory.

• #58 Alkaptonuria | Doctor

  https://patient.info/doctor/alkaptonuria.htm

  It may be identified in infancy because nappies stain black but very often this is overlooked or ignored. The diagnosis should, however, always be borne in mind in children with darkening urine, as it may be the only sign of the condition and early treatment may prevent the onset of many complications. […] Chromatographic examination of urine. This is the standard diagnostic test. Homogentisic acid can be identified using gas chromatography-mass spectroscopy. Plasma can also be used. There are reducing substances but not glucose present. […] If the disease is diagnosed in infancy, attempts are made to reduce progression. There have been no controlled trials but it is reasonable to restrict protein in the diet to reduce tyrosine and phenylalanine. The value of persisting with this regime into adulthood is dubious. […] Testing for carriers with a tyrosine load may give results but, as some have 50% of normal enzyme activity, it is unsatisfactory.

• #59 Alkaptonuria and ochronosis

  https://dermnetnz.org/topics/alkaptonuria-and-ochronosis

  Alkaptonuria is a rare genetic disease that is characterised by passing urine that becomes black when left standing. […] Alkaptonuria is an autosomal recessive inherited disorder, which means that two abnormal genes (one from each parent) are needed to have the disease. […] Alkaptonuria is a lifelong disease. There is no cure for the condition. If alkaptonuria is diagnosed early on in life it is reasonable for patients to have a low-protein diet. […] Although not proven, this could potentially avoid or minimise complications later in life.

• #60 Ochronosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ochronosis?lang=us

  Ochronosis, or alkaptonuria (AKU), is a rare multisystem autosomal recessive metabolic disorder. […] Patients often have pigmentation of auricular cartilages and sclera. Urine color tends to be dark (at birth sometimes diagnosed by discolouration of diapers). Up to 25% of patients with alkaptonuria do not have the characteristic dark urine staining; many patients remain undiagnosed until adulthood. […] As of April 2023, there is no effective treatment for alkaptonuria. A low-protein diet is recommended, thus minimizing phenylalanine and tyrosine intake. Vitamin C has been shown to slow down conversion of homogentisate to polymer deposits in the skin. Finally, nitisinone has been shown to halt ochronosis in mice.

• #61 Demographic, Phenotypic and Genotypic Features of Alkaptonuria Patients: A Single Centre Experience – The Journal of Pediatric Research

  https://jpedres.org/articles/demographic-phenotypic-and-genotypic-features-of-alkaptonuria-patients-a-single-centre-experience/doi/jpr.20982

  A mild protein restricted diet and vitamin C were administered to those patients who had joint pain, arthritis or ochronosis. […] There is no definite therapeutic protocol or no effective treatment for this disease. […] Nitisinone inhibits the enzyme that produces HGA but, at present, it is still under trial and its use is limited to adult alkaptonuric patients.

• #62 Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis | BMJ Case Reports

  https://casereports.bmj.com/content/17/12/e262395

  Following the diagnosis of the underlying cause of alkaptonuria in our patient, a treatment strategy was initiated. It is essential to note that alkaptonuria cannot be cured; it can only be regulated, and the manifestations of ochronosis can be controlled through follow-up examinations. […] Medication with nitisinone further reduces HGA accumulation but does not eliminate it from the tissues. Instead, comprehensive multiorgan and ongoing follow-up is imperative. […] The distinctive black discolouration and formation of stones were observed when the patient was in his 60s, which aligns with the estimated mean age for prostate stones, seen in approximately 30% of cases. […] Alkaptonuria is a multiorgan disease with a broad spectrum of symptoms. However, the symptoms presented in this case follow a pattern observed in other clinical cases. Signs of alkapton excretions in urine have been present since an early age, along with proteinuria. […] This case highlights the challenge of distinguishing whether certain rare symptomatic manifestations, such as newly found spinal cysts, chronic cough or polyneuropathy, are directly linked to alkaptonuria or would have developed independently.

• #63 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Alkaptonuria.aspx

  Alkaptonuria is diagnosed by detecting HGA in urine using gas chromatography-mass spectrometry, and is confirmed by genetic testing to identify a recessive mutation on the HGD gene. […] Regular monitoring is necessary to identify the presence of aortic dilatation, valve disease, and coronary calcification. This may require various imaging techniques. […] Family screening and early intervention may help reduce or prevent complications in other relatives.

• #64 Alkaptonuria | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17363

  The main focus of the treatment is to reduce the deposition of HGA. […] Patient awareness is a crucial element of patient care. Education about the disorder process, signs, and symptoms to lifestyle and diet modification, including a low protein diet, lifestyle counseling may improve long-term outcomes in people with AKU. […] Screening and genetic counseling should take place to diagnose the disease at the earliest in the community.

• #65 PARE0010 Alkaptonuria: An Old Disorder with a Late Diagnosis | Annals of the Rheumatic Diseases

  https://ard.bmj.com/content/74/Suppl_2/1361.2

  Alkaptonuria (AKU) is the first genetic metabolic disorder following an autosomal recessive pattern of inheritance, identified by Sir Achibald Edward Garrod (1). […] To evaluate the age at which AKU patients have been diagnosed, since on the basis of our experience the highest number of the adults received the exact diagnosis of AKU only late in age, after a long way looking for a resolution of their pain problems. […] The mean age of the patient was 50.117.3. Only 5 of them were diagnosed at the birth, the majority of the others (15) received the diagnosis between 40 and 58 years. […] Although the age of the diagnosis is decreased in the new century, too many people suffer without knowing to be affected by AKU. We hope the rheumatologists will play attention in considering AKU in their diagnosis and share the information with their colleagues like pediatricians, orthopedists, etc.

• #66 Alkaptonuria: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/alkaptonuria/

  Alkaptonuria is an inherited condition that causes arthritis, kidney stones, spots of dark pigmentation, and dark urine. […] The first symptom of alkaptonuria is often urine that turns black or very dark when it is exposed to air (oxidation). […] The body removes the excess pigment in urine. However, removing the large pigment deposits found in people with alkaptonuria can put strain on the kidneys, and this can lead to kidney (renal) failure. […] With appropriate medical management, people with alkaptonuria generally have a normal life expectancy. […] Alkaptonuria is rare, affecting 1 in 250,000 to 1 million people in the United States. […] Variants (also called mutations) in the HGD gene cause alkaptonuria. […] Excess homogentisic acid is also excreted in urine, making urine turn dark when exposed to air. […] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. […] Genetic Testing Registry: Alkaptonuria.

• #67 Rare Disease Education: Alkaptonuria | Sustainable Development Goals – Resource Centre

  https://sdgresources.relx.com/features/rare-disease-education-alkaptonuria

  Most of us can remember a time when we left bananas in the open air for too long and they turned a darker color. Similarly, the earliest and often missed sign of the rare genetic condition Alkaptonuria is urine that turns black when exposed to air for some time. […] Alkaptonuria is an autosomal recessive disease, meaning that the risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25 percent with each pregnancy. It is excessively rare with an estimated incidence of 1 in 250 thousand. […] The above stories illustrate the deep need for proper diagnosis in order to reduce the suffering of rare disease patients.

• #68 Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform

  https://www.mdpi.com/2073-4409/13/12/1072

  Alkaptonuria (AKU) is a rare genetic disease caused by the progressive accumulation of homogentisic acid (HGA) in the body. […] Diagnosis of AKU is reached based mainly on these two features of the clinical history; however, the non-specific nature of symptoms along with a general lack of knowledge among paediatricians and physicians can significantly delay the time of diagnosis. […] The homogentisic aciduria occurs from birth and causes blackening of urine, which is the first sign of AKU during this first asymptomatic stage of the disease. […] The deposition of the ochronotic pigment in the body is not uniform: most tissues are resistant to the pigmentation, and ochronosis mostly affects connective tissues, as suggested by preliminary studies on animals. […] Several degenerative changes, including joint-space narrowing, cartilage irregularities, subchondral sclerosis, and peripheral osteophytes can be detected during radiological inspection. […] The cardiovascular system can be impacted as well by ochronosis. […] AKU patients can also be subjected to the development of renal and prostate stones.

• #69 Orphanet: Alkaptonuria

  https://www.orpha.net/en/disease/detail/56

  Diagnosis is suspected upon clinical examination and is based on the amount of HGA found in the urine using gas chromatography-mass spectroscopy. […] As many patients present without dark urine, it may be advisable to look for HGA in all patients with radiographic evidence of osteoarthritis. […] Genetic testing confirms the diagnosis.

• #70 Ochronosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ochronosis?lang=us

  Ochronosis, or alkaptonuria (AKU), is a rare multisystem autosomal recessive metabolic disorder. […] Patients often have pigmentation of auricular cartilages and sclera. Urine color tends to be dark (at birth sometimes diagnosed by discolouration of diapers). Up to 25% of patients with alkaptonuria do not have the characteristic dark urine staining; many patients remain undiagnosed until adulthood. […] As of April 2023, there is no effective treatment for alkaptonuria. A low-protein diet is recommended, thus minimizing phenylalanine and tyrosine intake. Vitamin C has been shown to slow down conversion of homogentisate to polymer deposits in the skin. Finally, nitisinone has been shown to halt ochronosis in mice.

• #71 Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis | BMJ Case Reports

  https://casereports.bmj.com/content/17/12/e262395

  Following the diagnosis of the underlying cause of alkaptonuria in our patient, a treatment strategy was initiated. It is essential to note that alkaptonuria cannot be cured; it can only be regulated, and the manifestations of ochronosis can be controlled through follow-up examinations. […] Medication with nitisinone further reduces HGA accumulation but does not eliminate it from the tissues. Instead, comprehensive multiorgan and ongoing follow-up is imperative. […] The distinctive black discolouration and formation of stones were observed when the patient was in his 60s, which aligns with the estimated mean age for prostate stones, seen in approximately 30% of cases. […] Alkaptonuria is a multiorgan disease with a broad spectrum of symptoms. However, the symptoms presented in this case follow a pattern observed in other clinical cases. Signs of alkapton excretions in urine have been present since an early age, along with proteinuria. […] This case highlights the challenge of distinguishing whether certain rare symptomatic manifestations, such as newly found spinal cysts, chronic cough or polyneuropathy, are directly linked to alkaptonuria or would have developed independently.

• #72

  https://journals.lww.com/ijoo/fulltext/2012/18010/diagnosis_of_alkaptonuria.13.aspx

  The recent report on diagnosis of alkaptonuria is very interesting. […] Although the clinical manifestations of ochronosis occur late in the course of an alkaptonuric patient’s life, we must be alert for typical features like darkening of the pinna and tympanic membranes to aid in the diagnosis. […] Indeed, this disease is characterized by three main characteristics: homogentisic aciduria, eumelanin-like pigmentation, and degenerative ochronic arthropathies. […] The finding of abnormal ocular manifestation might be a useful tool for help in the diagnosis of this disorder. […] However, in fact, the abnormal urine should be the first thing to be detected before others in the clinical triad. […] In the setting where urinalysis is recommended in annual health check-up, the unexplained abnormal acidic urine might be the first thing that leads to further investigation to detect alkaptonuria. […] An easy next observation is on the bluish colored ears and sclerae.

• #73

  https://journals.lww.com/ijoo/fulltext/2012/18010/diagnosis_of_alkaptonuria.13.aspx

  The recent report on diagnosis of alkaptonuria is very interesting. […] Although the clinical manifestations of ochronosis occur late in the course of an alkaptonuric patient’s life, we must be alert for typical features like darkening of the pinna and tympanic membranes to aid in the diagnosis. […] Indeed, this disease is characterized by three main characteristics: homogentisic aciduria, eumelanin-like pigmentation, and degenerative ochronic arthropathies. […] The finding of abnormal ocular manifestation might be a useful tool for help in the diagnosis of this disorder. […] However, in fact, the abnormal urine should be the first thing to be detected before others in the clinical triad. […] In the setting where urinalysis is recommended in annual health check-up, the unexplained abnormal acidic urine might be the first thing that leads to further investigation to detect alkaptonuria. […] An easy next observation is on the bluish colored ears and sclerae.

• #74

  https://journals.lww.com/ijoo/fulltext/2012/18010/diagnosis_of_alkaptonuria.13.aspx

  The recent report on diagnosis of alkaptonuria is very interesting. […] Although the clinical manifestations of ochronosis occur late in the course of an alkaptonuric patient’s life, we must be alert for typical features like darkening of the pinna and tympanic membranes to aid in the diagnosis. […] Indeed, this disease is characterized by three main characteristics: homogentisic aciduria, eumelanin-like pigmentation, and degenerative ochronic arthropathies. […] The finding of abnormal ocular manifestation might be a useful tool for help in the diagnosis of this disorder. […] However, in fact, the abnormal urine should be the first thing to be detected before others in the clinical triad. […] In the setting where urinalysis is recommended in annual health check-up, the unexplained abnormal acidic urine might be the first thing that leads to further investigation to detect alkaptonuria. […] An easy next observation is on the bluish colored ears and sclerae.

• #75

  https://journals.lww.com/ijoo/fulltext/2012/18010/diagnosis_of_alkaptonuria.13.aspx

  The recent report on diagnosis of alkaptonuria is very interesting. […] Although the clinical manifestations of ochronosis occur late in the course of an alkaptonuric patient’s life, we must be alert for typical features like darkening of the pinna and tympanic membranes to aid in the diagnosis. […] Indeed, this disease is characterized by three main characteristics: homogentisic aciduria, eumelanin-like pigmentation, and degenerative ochronic arthropathies. […] The finding of abnormal ocular manifestation might be a useful tool for help in the diagnosis of this disorder. […] However, in fact, the abnormal urine should be the first thing to be detected before others in the clinical triad. […] In the setting where urinalysis is recommended in annual health check-up, the unexplained abnormal acidic urine might be the first thing that leads to further investigation to detect alkaptonuria. […] An easy next observation is on the bluish colored ears and sclerae.

• #76 Alkaptonuria: Causes, Symptoms and Diagnosis

  https://www.healthline.com/health/alkaptonuria

  Your doctor may suspect you have alkaptonuria if your urine turns dark brown or black when its exposed to air. […] They may also test you for the condition if you develop early onset osteoarthritis. […] Your doctor can use a test called gas chromatography to look for traces of homogentisic acid in your urine. […] They can also use DNA testing to check for the mutated HGD gene. […] Family history is very useful in making a diagnosis of alkaptonuria.

• #77 Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review – IJCBR

  https://www.ijcbr.in/html-article/12257

  Alkaptonuria is a rare error in tyrosine metabolism. […] Lack of local expertise and difficulty in detection of AKU has been expressed in literature. […] Objective of this technical review is to provide simple, quick and precise chemical methods with reagent and technical details so as to detect HGA in urine at every primary health care setups to pick up AKU at early age. […] Present technical review explains eight precise, time tested, simple and effective chemical methods. […] Aim of this paper is to provide comprehensive technical details of methods with reagent preparations so that any primary health centres or small labs can be able to detect positive sample with confidence and contribute to the diagnosis of rare disease. […] Biochemical tests performed towards diagnosis of AKU disorder are hard core chemical tests based on reducing nature of HGA or oxidative polymerization of HGA.

• #78 Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review – IJCBR

  https://www.ijcbr.in/html-article/12257

  Though sophisticated advanced methods like HPLC, MRI, X-ray and genetic study are available for diagnosis at higher centers having sharp edge but, due to lack of any definite treatment they remain time consuming and uneconomical for a patient. […] Present technical review explains precise, time tested, simple and effective chemical methods for diagnosis of rare inborn error AKU at any primary centre, even this can be practised at bed side clinics.

• #79 Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review – IJCBR

  https://www.ijcbr.in/html-article/12257

  Alkaptonuria is a rare error in tyrosine metabolism. […] Lack of local expertise and difficulty in detection of AKU has been expressed in literature. […] Objective of this technical review is to provide simple, quick and precise chemical methods with reagent and technical details so as to detect HGA in urine at every primary health care setups to pick up AKU at early age. […] Present technical review explains eight precise, time tested, simple and effective chemical methods. […] Aim of this paper is to provide comprehensive technical details of methods with reagent preparations so that any primary health centres or small labs can be able to detect positive sample with confidence and contribute to the diagnosis of rare disease. […] Biochemical tests performed towards diagnosis of AKU disorder are hard core chemical tests based on reducing nature of HGA or oxidative polymerization of HGA.

• #80 Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review – IJCBR

  https://www.ijcbr.in/html-article/12257

  Alkaptonuria is a rare error in tyrosine metabolism. […] Lack of local expertise and difficulty in detection of AKU has been expressed in literature. […] Objective of this technical review is to provide simple, quick and precise chemical methods with reagent and technical details so as to detect HGA in urine at every primary health care setups to pick up AKU at early age. […] Present technical review explains eight precise, time tested, simple and effective chemical methods. […] Aim of this paper is to provide comprehensive technical details of methods with reagent preparations so that any primary health centres or small labs can be able to detect positive sample with confidence and contribute to the diagnosis of rare disease. […] Biochemical tests performed towards diagnosis of AKU disorder are hard core chemical tests based on reducing nature of HGA or oxidative polymerization of HGA.

• #81 Blue palms and nails: A clue to diagnosis of alkaptonuria – Indian Journal of Dermatology, Venereology and Leprology

  https://ijdvl.com/blue-palms-and-nails-a-clue-to-diagnosis-of-alkaptonuria/

  Alkaptonuria is a rare autosomal recessive disorder of the tyrosine metabolism pathway caused by deficiency in the enzyme homogentisate-1, 2-dioxygenase. […] Based on the history and clinical findings, alkaptonuria and heavy metal toxicity were considered in the differentials. […] Thus, based on the clinical and laboratory findings, the final diagnosis of alkaptonuria was made and the patient was advised oral ascorbic acid, low-protein diet, and sodium bicarbonate 250 mg, nifedipine 5 mg, and analgesics (sos) for renal and joint symptoms. […] Pigmentation of the skin over palms and soles and nails in the presence of arthropathy and nephropathy should raise a suspicion of alkaptonuria and simple alkalinization of the urine can lead to a diagnosis in resource-poor settings. […] In our patient, alkalinization of urine with sodium bicarbonate resulted in symptomatic improvement.

• #82 Detection of Alkaptonuria by simple, effective and precise chemical methods: A technical review – IJCBR

  https://www.ijcbr.in/html-article/12257

  Though sophisticated advanced methods like HPLC, MRI, X-ray and genetic study are available for diagnosis at higher centers having sharp edge but, due to lack of any definite treatment they remain time consuming and uneconomical for a patient. […] Present technical review explains precise, time tested, simple and effective chemical methods for diagnosis of rare inborn error AKU at any primary centre, even this can be practised at bed side clinics.

• #83 Alkaptonuria: Causes, Symptoms, Diagnosis, and Treatment Options Explained | OnlyMyHealth

  https://www.onlymyhealth.com/alkaptonuria-causes-symptoms-diagnosis-treatment-12977827239

  Alkaptonuria is diagnosed through a combination of clinical evaluation and specific laboratory tests that confirm the presence of homogentisic acid in the urine. […] Initially, a healthcare provider will assess the patient’s symptoms and medical history, looking for signs such as darkening of the urine upon exposure to air, joint pain, and other related issues, said Dr Chethana, adding that the primary test used for diagnosis is a urine test that measures the levels of homogentisic acid, which is elevated in individuals with this condition. […] Additionally, further confirmation may involve genetic testing to identify mutations in the HGD gene responsible for the disorder.

• #84 Alkaptonuria Disease: Symptoms, Causes and Treatment

  https://tap.health/how-to-diagnose-alkaptonuria-urine-analysis-and-genetic-testing/

  Alkaptonuria, also known as Black Urine Disease, is a rare inherited metabolic disorder characterized by the accumulation of a pigment called homogentisic acid (HGA) in various body tissues. […] Diagnosing Alkaptonuria typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. A thorough medical history review and physical examination can provide valuable insights, particularly when characteristic symptoms manifest. […] Urine analysis is a crucial diagnostic tool for Alkaptonuria. Specialized tests, such as gas chromatography-mass spectrometry, can detect the presence of homogentisic acid (HGA). Elevated levels of HGA in the urine can be a key indicator of Alkaptonuria. Furthermore, the analysis of urine samples may also reveal the presence of dark pigmentation, a hallmark of this rare genetic disorder.

• #85 Alkaptonuria Disease: Symptoms, Causes and Treatment

  https://tap.health/how-to-diagnose-alkaptonuria-urine-analysis-and-genetic-testing/

  Alkaptonuria, also known as Black Urine Disease, is a rare inherited metabolic disorder characterized by the accumulation of a pigment called homogentisic acid (HGA) in various body tissues. […] Diagnosing Alkaptonuria typically involves a combination of clinical evaluation, biochemical testing, and genetic analysis. A thorough medical history review and physical examination can provide valuable insights, particularly when characteristic symptoms manifest. […] Urine analysis is a crucial diagnostic tool for Alkaptonuria. Specialized tests, such as gas chromatography-mass spectrometry, can detect the presence of homogentisic acid (HGA). Elevated levels of HGA in the urine can be a key indicator of Alkaptonuria. Furthermore, the analysis of urine samples may also reveal the presence of dark pigmentation, a hallmark of this rare genetic disorder.

• #86 Alkaptonuria – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK560571/

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] Identify the gold standard diagnostic test to diagnose alkaptonuria. […] The urine test for HGA is the gold-standard test to diagnose alkaptonuria. The amount of homogentisic acid in the 24-hour urine is detected via gas chromatography-mass spectrometry (GC-MS) analysis. […] The diagnosis and evaluation of AKU can be established based on the severity scoring system.

• #87 Alkaptonuria Disease: Symptoms, Causes and Treatment

  https://tap.health/how-to-diagnose-alkaptonuria-urine-analysis-and-genetic-testing/

  In addition to urine analysis and biochemical testing, genetic analysis plays a significant role in confirming a diagnosis of Alkaptonuria. Molecular genetic testing can help identify specific mutations in the homogentisate 1,2-dioxygenase (HGD) gene, which is responsible for encoding the enzyme involved in HGA metabolism. By pinpointing these genetic variations, healthcare providers can definitively confirm the presence of Alkaptonuria in an individual.

• #88 Alkaptonuria: Causes, Symptoms & Treatment Options

  https://sehathub.com/alkaptonuria

  Diagnosing alkaptonuria involves a comprehensive evaluation that takes into account unique symptoms, a detailed patient medical history, a meticulous clinical examination, and specialized diagnostic tests. […] This is a fundamental diagnostic step where urine samples are analyzed to detect the presence of homogentisic acid, a key marker of alkaptonuria. Homogentisic acid levels in a 24-hour urine sample are measured using gas chromatography-mass spectrometry (GC-MS) analysis. […] Various imaging techniques can be employed to assess the impact of alkaptonuria on different body systems. […] In some cases, a histopathological examination of affected tissues or organs may be necessary. This involves microscopic analysis of tissue samples to confirm the presence of alkaptonuria-related changes.

• #89 Alkaptonuria: Causes, Symptoms & Treatment Options

  https://sehathub.com/alkaptonuria

  Diagnosing alkaptonuria involves a comprehensive evaluation that takes into account unique symptoms, a detailed patient medical history, a meticulous clinical examination, and specialized diagnostic tests. […] This is a fundamental diagnostic step where urine samples are analyzed to detect the presence of homogentisic acid, a key marker of alkaptonuria. Homogentisic acid levels in a 24-hour urine sample are measured using gas chromatography-mass spectrometry (GC-MS) analysis. […] Various imaging techniques can be employed to assess the impact of alkaptonuria on different body systems. […] In some cases, a histopathological examination of affected tissues or organs may be necessary. This involves microscopic analysis of tissue samples to confirm the presence of alkaptonuria-related changes.

• #90 Alkaptonuria: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/alkaptonuria/

  Alkaptonuria is an inherited condition that causes arthritis, kidney stones, spots of dark pigmentation, and dark urine. […] The first symptom of alkaptonuria is often urine that turns black or very dark when it is exposed to air (oxidation). […] The body removes the excess pigment in urine. However, removing the large pigment deposits found in people with alkaptonuria can put strain on the kidneys, and this can lead to kidney (renal) failure. […] With appropriate medical management, people with alkaptonuria generally have a normal life expectancy. […] Alkaptonuria is rare, affecting 1 in 250,000 to 1 million people in the United States. […] Variants (also called mutations) in the HGD gene cause alkaptonuria. […] Excess homogentisic acid is also excreted in urine, making urine turn dark when exposed to air. […] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. […] Genetic Testing Registry: Alkaptonuria.

• #91 What is Alkaptonuria? | Contour Dermatology

  https://contourderm.com/what-is-alkaptonuria/

  Alkaptonuria is most often diagnosed in middle age as the painful symptoms of this disease begin to impinge on daily activities. […] However, the earlier it is detected the better the prognosis. […] If you or your child begins to experience signs or symptoms of alkaptonuria especially urine that darkens significantly after exposure to air as this is often one of the earlier symptoms schedule an appointment with your physician for evaluation and treatment.

• #92 Alkaptonuria | Hereditary Ocular Diseases

  https://disorders.eyes.arizona.edu/handouts/alkaptonuria

  Many individuals are diagnosed during infancy or early childhood when parents note stained diapers because darkening of the urine on exposure to the air is a prominent symptom. […] In others the diagnosis is not made until much later in life when joint disease leads to pain and limitation of motion. […] Because of the widespread manifestations, a multidisciplinary approach with orthopedists, ophthalmologists, urologists, and cardiologists is advisable to treat specific affected areas.

• #93 Azthena logo with the word Azthena

  https://www.news-medical.net/health/What-is-Alkaptonuria.aspx

  Alkaptonuria is diagnosed by detecting HGA in urine using gas chromatography-mass spectrometry, and is confirmed by genetic testing to identify a recessive mutation on the HGD gene. […] Regular monitoring is necessary to identify the presence of aortic dilatation, valve disease, and coronary calcification. This may require various imaging techniques. […] Family screening and early intervention may help reduce or prevent complications in other relatives.

• #94 Alkaptonuria | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17363

  The main focus of the treatment is to reduce the deposition of HGA. […] Patient awareness is a crucial element of patient care. Education about the disorder process, signs, and symptoms to lifestyle and diet modification, including a low protein diet, lifestyle counseling may improve long-term outcomes in people with AKU. […] Screening and genetic counseling should take place to diagnose the disease at the earliest in the community.

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