Materiały źródłowe

• #1 ALKAPTONURIA: THE RARE DISEASE THAT TURNS URINE BLACK | Mya Care

  https://myacare.com/blog/alkaptonuria-the-rare-disease-that-turns-urine-black

  Alkaptonuria (AKU) is a very rare genetic disease that affects about 1 in 250,000 to 1 million people worldwide. […] There is no cure for Alkaptonuria. Researchers are currently looking to develop novel therapeutics that aim to replace HGD or inhibit HGA oxidation. […] Nitisinone is a drug recently approved to inhibit the enzyme that converts tyrosine to HGA, thus reducing the amount of HGA in the body. […] Other treatments for Alkaptonuria include: Low Tyrosine Diet, Antioxidant Supplementation, Symptom Relief, Joint and Valve Replacement Surgery. […] Alkaptonuria is a rare disease that illustrates how a single gene mutation can have profound effects on the body. While not life-threatening, Alkaptonuria can lead to osteoarthritis and other diseases at earlier ages, which can greatly detract from the quality of life.

• #2 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. […] In Alkaptonuria, the body has a genetic mutation that causes a deficit in the enzyme that breaks down a compound called homogentisic acid. Over time, this acid builds up to eventually cause a variety of health problems, including joint pain and arthritis, darkening of several body areas, and even serious heart complications. Connective tissues, eyes, and even bones can turn blue or black, earning this weeks Zebra the nickname Black Bone Disease. […] 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.

• #3 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. […] In Alkaptonuria, the body has a genetic mutation that causes a deficit in the enzyme that breaks down a compound called homogentisic acid. Over time, this acid builds up to eventually cause a variety of health problems, including joint pain and arthritis, darkening of several body areas, and even serious heart complications. Connective tissues, eyes, and even bones can turn blue or black, earning this weeks Zebra the nickname Black Bone Disease. […] 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.

• #4 What Happens in Alkaptonuria?

  https://www.medicinenet.com/what_happens_in_alkaptonuria/article.htm

  Alkaptonuria is a type of metabolic disorder. […] Alkaptonuria is a rare inherited disorder that prevents the body from fully breaking down two amino acids: tyrosine and phenylalanine. […] Alkaptonuria results in a buildup of a chemical called homogentisic acid in the body. […] This can impart urine and parts of the body a dark color and lead to a range of problems over time. […] It happens when our body cannot produce enough homogentisate dioxygenase (HGD) enzyme to break down the homogentisic acid, which is toxic to the body. […] One of the earliest signs of this condition is dark-stained nappies because homogentisic acid causes the urine to turn black when exposed to air for a few hours. […] Other signs and symptoms may include: Arthritis (pain and inflammation in the joints)

• #5 Alkaptonuria – StatPearls – NCBI Bookshelf

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

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] The management of AKU is ideally done by the healthcare professional team that involves a nurse, ophthalmology, biochemical geneticist, physical therapist, rheumatologist, orthopedic surgeon, a cardiologist for older patients, pain specialist, pharmacist, and an internist. […] 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. […] A multi-disciplinary approach aimed at improving the quality of life and reducing morbidity should be the priority in treating AKU patients.

• #6 Alkaptonuria – StatPearls – NCBI Bookshelf

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

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] The management of AKU is ideally done by the healthcare professional team that involves a nurse, ophthalmology, biochemical geneticist, physical therapist, rheumatologist, orthopedic surgeon, a cardiologist for older patients, pain specialist, pharmacist, and an internist. […] 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. […] A multi-disciplinary approach aimed at improving the quality of life and reducing morbidity should be the priority in treating AKU patients.

• #7 Alkaptonuria (Black Urine Disease) Treatment & Management: Medical Care, Surgical Care, Consultations

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

  More recently, use of nitisinone, an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, which mediates formation of homogentisic acid, has been reported. […] Urinary homogentisate excretion was markedly reduced, and safety of prolonged use is no longer an open question. […] Older individuals may require removal of lumbar discs with fusion. […] Hip, shoulder, or knee joint replacement may be necessary. […] Consultations may include the following: Biochemical geneticist, Neurosurgeon, Orthopedist, Cardiologist (older patients). […] Reduction of phenylalanine and tyrosine reportedly reduced homogentisic acid excretion in the urine of a child. In an adult, a similar restriction reportedly had no effect on excretion of the abnormal metabolite. Whether a mild dietary restriction from early in life would avoid or minimize later complications is not known, but such an approach is reasonable. […] Vitamin C, as much as 1 g/d, is recommended for older children and adults.

• #8 Alkaptonuria – StatPearls – NCBI Bookshelf

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

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] The management of AKU is ideally done by the healthcare professional team that involves a nurse, ophthalmology, biochemical geneticist, physical therapist, rheumatologist, orthopedic surgeon, a cardiologist for older patients, pain specialist, pharmacist, and an internist. […] 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. […] A multi-disciplinary approach aimed at improving the quality of life and reducing morbidity should be the priority in treating AKU patients.

• #9 Alkaptonuria – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/alkaptonuria/

  The current care for AKU is aimed at controlling symptoms. […] One common recommendation is ascorbic acid, more commonly recognized as vitamin C. […] Another option considered is adopting a low protein diet. […] Research has suggested that a substance called nitisinone, commonly known as a weed killer, could be significantly beneficial in treating AKU. […] In some cases, patients might need surgery, like knee and hip replacements. […] Learning about their disease, how to spot symptoms, and making changes to their daily lifestyle and diet, including eating less protein, can significantly improve their long-term health. […] Sessions to educate and support patients about healthy lifestyle choices can be very beneficial.

• #10 Alkaptonuria

  https://www.nhs.uk/conditions/alkaptonuria/

  Alkaptonuria is a lifelong condition. […] A medicine called nitisinone is used to slow the advance of alkaptonuria in adults. […] Painkillers and lifestyle changes may help you cope with the symptoms. […] Nitisinone reduces the level of homogentisic acid in the body. […] A protein-controlled diet can be useful in reducing the risk of potential side effects when taking nitisinone for alkaptonuria during adulthood. […] If alkaptonuria causes pain and stiffness, you may think exercise will make your symptoms worse. But regular gentle exercise can actually help by building muscle and strengthening your joints. […] Speak to a doctor about painkillers and other techniques to manage pain. […] A diagnosis of alkaptonuria can be confusing and overwhelming at first. […] Sometimes surgery may be necessary if joints are damaged and need replacing, or if heart valves or vessels have hardened.

• #11 Child nursing: Alkaptonuria – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/nursing-educators-toolkit/child-nursing-alkaptonuria/

  So, if nurses and doctors could spend time even just half an hour taking us through the basics of what causes the genetic disease and the current state of research, that would help. […] Patient support groups are an important source of information, not only for those affected but also for healthcare professionals.

• #12 Overview of Alkaptonuria or 'black bone disease’ RCNi Learning

  https://rcnilearning.com/online-learning-for-nurses/cpd/an-overview-of-alkaptonuria-aku-or-black-bone-disease/wiGQ

  This module aims to provide an overview of AKU in adults and children and offer insights into the presentation of people with the condition, the effects it has on those diagnosed, and the physical and psychological issues that nurses and the multidisciplinary team should address in managing the care and treatment of those with this condition. […] Outline the principles of current management and pharmacological treatment of patients with this long-term condition. […] Discuss the impact of AKU on the quality of life of patients, their family and carers.

• #13 Child nursing: Alkaptonuria – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/nursing-educators-toolkit/child-nursing-alkaptonuria/

  My children have a rare and serious rare recessive genetic condition called alkaptonuria (AKU). AKU is caused by a missing enzyme that leads to the accumulation of a substance known as homogentisic acid, which leads to cartilage damage, heart problems and a host of other health issues. […] When the results came in, our GP told us not to worry, that the disease wasnt very serious and recommended that we avoid searching for AKU on the internet because it would make us worried. However, we did and we obtained much more information than our GP gave us. […] We didnt get any support from nurses, genetic specialists or any other healthcare professionals at the point of diagnosis. I think any extra support would have helped. For me, it was particularly important to have a detailed and clear explanation of the illness and its causes, but the doctors were only prepared to give us a few minutes maximum.

• #14 ALKAPTONURIA: THE RARE DISEASE THAT TURNS URINE BLACK | Mya Care

  https://myacare.com/blog/alkaptonuria-the-rare-disease-that-turns-urine-black

  Alkaptonuria (AKU) is a very rare genetic disease that affects about 1 in 250,000 to 1 million people worldwide. […] There is no cure for Alkaptonuria. Researchers are currently looking to develop novel therapeutics that aim to replace HGD or inhibit HGA oxidation. […] Nitisinone is a drug recently approved to inhibit the enzyme that converts tyrosine to HGA, thus reducing the amount of HGA in the body. […] Other treatments for Alkaptonuria include: Low Tyrosine Diet, Antioxidant Supplementation, Symptom Relief, Joint and Valve Replacement Surgery. […] Alkaptonuria is a rare disease that illustrates how a single gene mutation can have profound effects on the body. While not life-threatening, Alkaptonuria can lead to osteoarthritis and other diseases at earlier ages, which can greatly detract from the quality of life.

• #15 Alkaptonuria

  https://www.nhs.uk/conditions/alkaptonuria/

  Alkaptonuria is a lifelong condition. […] A medicine called nitisinone is used to slow the advance of alkaptonuria in adults. […] Painkillers and lifestyle changes may help you cope with the symptoms. […] Nitisinone reduces the level of homogentisic acid in the body. […] A protein-controlled diet can be useful in reducing the risk of potential side effects when taking nitisinone for alkaptonuria during adulthood. […] If alkaptonuria causes pain and stiffness, you may think exercise will make your symptoms worse. But regular gentle exercise can actually help by building muscle and strengthening your joints. […] Speak to a doctor about painkillers and other techniques to manage pain. […] A diagnosis of alkaptonuria can be confusing and overwhelming at first. […] Sometimes surgery may be necessary if joints are damaged and need replacing, or if heart valves or vessels have hardened.

• #16 Alkaptonuria (Black Urine Disease) Medication: Vitamins, Enzyme inhibitors

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

  Nitisinone is now known to be useful in managing alkaptonuria. Vitamin C, as much as 1 g/d, is also recommended for older children and adults. […] The mild antioxidant nature of ascorbic acid helps to retard the process of conversion of homogentisate to the polymeric material that is deposited in cartilaginous tissues. […] Nitisinone, a tyrosine degradation inhibitor, has been used experimentally. […] Its clinical use has now been shown to be safe and effective.

• #17 Preventive use of nitisinone in alkaptonuria | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01977-0

  Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark intervention studies with nitisinone 10 mg daily, suppressing an upstream enzyme activity, demonstrated its beneficial effects in AKU patients with established complications, which usually start to develop in the fourth decade. Lower dose of nitisinone in the range of 0.22 mg daily will already reduce urinary homogentisic acid (uHGA) excretion by 90%, which may prevent AKU-related complications earlier in the course of the disease while limiting the possibility of side-effects related to the increase of plasma tyrosine levels caused by nitisinone. Future preventive studies should establish the lowest possible dose for an individual patient, the best age to start treatment and also collect evidence to which level uHGA excretion should be reduced to prevent complications.

• #18 Preventive use of nitisinone in alkaptonuria | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01977-0

  Nitisinone doses lower than those used in the recently published intervention studies may be helpful to prevent the development of complications, instead of combatting these once they are clinically evident. Early low-dose preventive treatment may postpone complications and prevent the necessity for joint replacements or cardiac valve repair or replacement, while in the same time there may be a lower risk of drug-related side-effects. […] Important questions such as the optimal age at start of treatment, the desired dose of nitisinone and the need of a diet need to be addressed in our conversations with patients. When started early in the course of the disease, for instance in the third decade or even earlier, treatment with nitisinone perhaps at even lower doses than used in the intervention studies may be able to prevent the development of the long-term consequences as a result of its HGA-reducing properties.

• #19 Alkaptonuria (Black Urine Disease) Medication: Vitamins, Enzyme inhibitors

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

  Nitisinone is now known to be useful in managing alkaptonuria. Vitamin C, as much as 1 g/d, is also recommended for older children and adults. […] The mild antioxidant nature of ascorbic acid helps to retard the process of conversion of homogentisate to the polymeric material that is deposited in cartilaginous tissues. […] Nitisinone, a tyrosine degradation inhibitor, has been used experimentally. […] Its clinical use has now been shown to be safe and effective.

• #20 Alkaptonuria (Black Urine Disease) Treatment & Management: Medical Care, Surgical Care, Consultations

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

  In infancy, a history of dark-stained diapers should alert the physician to alkaptonuria. […] Infants, young children, and asymptomatic young adults can be evaluated with simple urine testing on an outpatient basis. […] Medical therapy is used to ameliorate the rate of pigment deposition. This minimizes articular and cardiovascular complications in later life. […] Reduction of phenylalanine and tyrosine has reportedly reduced homogentisic acid excretion. Whether a mild dietary restriction from early in life would avoid or minimize later complications is not known, but such an approach is reasonable. […] Vitamin C, as much as 1 g/d, is recommended for older children and adults. The mild antioxidant nature of ascorbic acid helps to retard the process of conversion of homogentisate to the polymeric material that is deposited in cartilaginous tissues.

• #21 Alkaptonuria | PPT

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

  In older children and adults, high-doses of vitamin C is recommended because it hinders the accumulation and deposition of HGA and may slow down the progression of arthritis. […] High Vitamin C (ascorbic acid) intake is prescribed (1g/day). Best source of vitamin C is fruits and vegetables. Fruits like oranges, indian gooseberry, grapefruit, tangerines, kiwi fruit, strawberries, etc. Vegetables like broccoli, cabbage, brussels sprouts, tomatoes, green peppers, melons, sweet peppers, potatoes with skin, and alfalfa sprouts. Low protein diet, especially in the amino acids phe and tyr, can help reduce levels of HGA. […] Eggs, meat and meat products including pork, lamb, beef, chicken; dairy products like cheese and milk; legumes, nuts, seeds should be restricted from the diet. Aspartame (artificial sweetener) should be avoided. Sugars, jams, sweets, solid vegetable oils, cooking oils, fruits and vegetables can be given. Exchanges containing 1g of protein can be given. Phe level should be maintained between 3-15%. Phe and tyr free chemically defined food can be given. Sufficient energy needs should be met through low protein food to assure normal growth.

• #22 Alkaptonuria: Causes, Symptoms and Diagnosis

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

  Alkaptonuria is a lifelong condition, but there are many ways to help manage your symptoms. […] Theres no specific treatment for alkaptonuria. Instead, treatment is focused largely on managing symptoms. […] Other treatments for alkaptonuria are focused on preventing and relieving possible complications, such as arthritis, heart disease, and kidney stones. […] For example, your doctor may prescribe anti-inflammatory medications or narcotics for joint pain. Physical and occupational therapy may help you maintain flexibility and strength in your muscles and joints. […] You should also avoid activities that put a lot of strain on your joints, such as heavy manual labor and contact sports. At some point in your life, you might need surgery. […] The World Institutes of Health reports adults can experience a buildup of homogentisic acid in cartilage, resulting in arthritis. As a result those with alkaptonuria may need a shoulder, knee, or hip replacement.

• #23 HIE Multimedia – Alkaptonuria

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001200

  Management of alkaptonuria has traditionally been focused on controlling symptoms. Eating a low protein diet may be helpful, but many people find this restriction difficult. Medicines, such as NSAIDs and physical therapy may help relieve joint pain. […] 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. […] Genetic counseling is recommended for people with a family history of alkaptonuria who are considering having children.

• #24 Alkaptonuria – StatPearls – NCBI Bookshelf

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

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] The management of AKU is ideally done by the healthcare professional team that involves a nurse, ophthalmology, biochemical geneticist, physical therapist, rheumatologist, orthopedic surgeon, a cardiologist for older patients, pain specialist, pharmacist, and an internist. […] 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. […] A multi-disciplinary approach aimed at improving the quality of life and reducing morbidity should be the priority in treating AKU patients.

• #25 Alkaptonuria | PPT

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

  In older children and adults, high-doses of vitamin C is recommended because it hinders the accumulation and deposition of HGA and may slow down the progression of arthritis. […] High Vitamin C (ascorbic acid) intake is prescribed (1g/day). Best source of vitamin C is fruits and vegetables. Fruits like oranges, indian gooseberry, grapefruit, tangerines, kiwi fruit, strawberries, etc. Vegetables like broccoli, cabbage, brussels sprouts, tomatoes, green peppers, melons, sweet peppers, potatoes with skin, and alfalfa sprouts. Low protein diet, especially in the amino acids phe and tyr, can help reduce levels of HGA. […] Eggs, meat and meat products including pork, lamb, beef, chicken; dairy products like cheese and milk; legumes, nuts, seeds should be restricted from the diet. Aspartame (artificial sweetener) should be avoided. Sugars, jams, sweets, solid vegetable oils, cooking oils, fruits and vegetables can be given. Exchanges containing 1g of protein can be given. Phe level should be maintained between 3-15%. Phe and tyr free chemically defined food can be given. Sufficient energy needs should be met through low protein food to assure normal growth.

• #26 Alkaptonuria (Black Urine Disease) Treatment & Management: Medical Care, Surgical Care, Consultations

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

  More recently, use of nitisinone, an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, which mediates formation of homogentisic acid, has been reported. […] Urinary homogentisate excretion was markedly reduced, and safety of prolonged use is no longer an open question. […] Older individuals may require removal of lumbar discs with fusion. […] Hip, shoulder, or knee joint replacement may be necessary. […] Consultations may include the following: Biochemical geneticist, Neurosurgeon, Orthopedist, Cardiologist (older patients). […] Reduction of phenylalanine and tyrosine reportedly reduced homogentisic acid excretion in the urine of a child. In an adult, a similar restriction reportedly had no effect on excretion of the abnormal metabolite. Whether a mild dietary restriction from early in life would avoid or minimize later complications is not known, but such an approach is reasonable. […] Vitamin C, as much as 1 g/d, is recommended for older children and adults.

• #27 Alkaptonuria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/alkaptonuria

  Management of alkaptonuria has traditionally been focused on controlling symptoms. Eating a low protein diet may be helpful, but many people find this restriction difficult. Medicines, such as NSAIDs and physical therapy may help relieve joint pain. […] 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. […] Genetic counseling is recommended for people with a family history of alkaptonuria who are considering having children. 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.

• #28 HIE Multimedia – Alkaptonuria

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001200

  Management of alkaptonuria has traditionally been focused on controlling symptoms. Eating a low protein diet may be helpful, but many people find this restriction difficult. Medicines, such as NSAIDs and physical therapy may help relieve joint pain. […] 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. […] Genetic counseling is recommended for people with a family history of alkaptonuria who are considering having children.

• #29 Alkaptonuria

  https://www.nhs.uk/conditions/alkaptonuria/

  Alkaptonuria is a lifelong condition. […] A medicine called nitisinone is used to slow the advance of alkaptonuria in adults. […] Painkillers and lifestyle changes may help you cope with the symptoms. […] Nitisinone reduces the level of homogentisic acid in the body. […] A protein-controlled diet can be useful in reducing the risk of potential side effects when taking nitisinone for alkaptonuria during adulthood. […] If alkaptonuria causes pain and stiffness, you may think exercise will make your symptoms worse. But regular gentle exercise can actually help by building muscle and strengthening your joints. […] Speak to a doctor about painkillers and other techniques to manage pain. […] A diagnosis of alkaptonuria can be confusing and overwhelming at first. […] Sometimes surgery may be necessary if joints are damaged and need replacing, or if heart valves or vessels have hardened.

• #30 What Happens in Alkaptonuria?

  https://www.medicinenet.com/what_happens_in_alkaptonuria/article.htm

  Deposits of homogentisic acid around the heart valves can cause them to harden and turn brittle and black (The blood vessels can also stiffen and weaken, and this can lead to heart disease and may require heart valve replacements.) […] There is no cure for alkaptonuria. […] Painkillers and lifestyle changes may help cope with the symptoms. […] Some individuals may benefit from high doses of vitamin C. […] Nitisinone reduces the homogentisic acid level in the body. […] Dietary restriction of amino acids: phenylalanine and tyrosine. […] Speak to a doctor about painkillers and other techniques to manage pain. […] Regular gentle exercise can help by building muscle and strengthening the joints. […] Sometimes, surgery may be necessary if the joints are damaged and need replacing or if the heart valves or vessels have hardened.

• #31 Alkaptonuria: Causes, Symptoms and Diagnosis

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

  Alkaptonuria is a lifelong condition, but there are many ways to help manage your symptoms. […] Theres no specific treatment for alkaptonuria. Instead, treatment is focused largely on managing symptoms. […] Other treatments for alkaptonuria are focused on preventing and relieving possible complications, such as arthritis, heart disease, and kidney stones. […] For example, your doctor may prescribe anti-inflammatory medications or narcotics for joint pain. Physical and occupational therapy may help you maintain flexibility and strength in your muscles and joints. […] You should also avoid activities that put a lot of strain on your joints, such as heavy manual labor and contact sports. At some point in your life, you might need surgery. […] The World Institutes of Health reports adults can experience a buildup of homogentisic acid in cartilage, resulting in arthritis. As a result those with alkaptonuria may need a shoulder, knee, or hip replacement.

• #32 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. […] Management is symptomatic and may include: […] Palliation of joint pain […] Physical therapy to strengthen the muscles and maintain flexibility […] Occupational therapy to help the patient remain independent and carry out activities of daily living […] Joint replacements when needed […] Treatment of renal and prostate calculi […] Aortic valve replacement if required. […] Regular monitoring is necessary to identify the presence of aortic dilatation, valve disease, and coronary calcification. This may require various imaging techniques. Joint stress, such as high-impact sports or heavy manual work should be avoided. Family screening and early intervention may help reduce or prevent complications in other relatives.

• #33 Alkaptonuria: Causes, Symptoms and Diagnosis

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

  Alkaptonuria is a lifelong condition, but there are many ways to help manage your symptoms. […] Theres no specific treatment for alkaptonuria. Instead, treatment is focused largely on managing symptoms. […] Other treatments for alkaptonuria are focused on preventing and relieving possible complications, such as arthritis, heart disease, and kidney stones. […] For example, your doctor may prescribe anti-inflammatory medications or narcotics for joint pain. Physical and occupational therapy may help you maintain flexibility and strength in your muscles and joints. […] You should also avoid activities that put a lot of strain on your joints, such as heavy manual labor and contact sports. At some point in your life, you might need surgery. […] The World Institutes of Health reports adults can experience a buildup of homogentisic acid in cartilage, resulting in arthritis. As a result those with alkaptonuria may need a shoulder, knee, or hip replacement.

• #34 Alkaptonuria: Causes, Symptoms and Diagnosis

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

  You may also require surgery to replace your aortic or mitral heart valves, if they stop working properly. In some cases, you may need surgery or other therapies to treat chronic kidney or prostate stones. […] Some of these complications can be delayed with regular checkups. Your doctor will want to monitor you regularly. Tests to monitor the progress of your condition might include spinal X-rays to check for disk degeneration and calcification in your lumbar spine, chest X-rays to monitor your aortic and mitral heart valves, and CT scans to find signs of coronary artery disease.

• #35 Alkaptonuria: Causes, Symptoms and Diagnosis

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

  You may also require surgery to replace your aortic or mitral heart valves, if they stop working properly. In some cases, you may need surgery or other therapies to treat chronic kidney or prostate stones. […] Some of these complications can be delayed with regular checkups. Your doctor will want to monitor you regularly. Tests to monitor the progress of your condition might include spinal X-rays to check for disk degeneration and calcification in your lumbar spine, chest X-rays to monitor your aortic and mitral heart valves, and CT scans to find signs of coronary artery disease.

• #36 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. […] Management is symptomatic and may include: […] Palliation of joint pain […] Physical therapy to strengthen the muscles and maintain flexibility […] Occupational therapy to help the patient remain independent and carry out activities of daily living […] Joint replacements when needed […] Treatment of renal and prostate calculi […] Aortic valve replacement if required. […] Regular monitoring is necessary to identify the presence of aortic dilatation, valve disease, and coronary calcification. This may require various imaging techniques. Joint stress, such as high-impact sports or heavy manual work should be avoided. Family screening and early intervention may help reduce or prevent complications in other relatives.

• #37 Alkaptonuria

  https://www.nhs.uk/conditions/alkaptonuria/

  Your doctor may recommend: hip replacement, knee replacement, aortic valve replacement. […] People with alkaptonuria have a normal life expectancy. However, they will eventually experience symptoms, such as pain and loss of movement in the joints and spine, which can affect quality of life. […] Working and carrying out strenuous physical activity will usually become very difficult, and eventually you may need mobility aids such as a wheelchair to get around.

• #38 Alkaptonuria: Causes, Symptoms and Diagnosis

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

  Alkaptonuria is a lifelong condition, but there are many ways to help manage your symptoms. […] Theres no specific treatment for alkaptonuria. Instead, treatment is focused largely on managing symptoms. […] Other treatments for alkaptonuria are focused on preventing and relieving possible complications, such as arthritis, heart disease, and kidney stones. […] For example, your doctor may prescribe anti-inflammatory medications or narcotics for joint pain. Physical and occupational therapy may help you maintain flexibility and strength in your muscles and joints. […] You should also avoid activities that put a lot of strain on your joints, such as heavy manual labor and contact sports. At some point in your life, you might need surgery. […] The World Institutes of Health reports adults can experience a buildup of homogentisic acid in cartilage, resulting in arthritis. As a result those with alkaptonuria may need a shoulder, knee, or hip replacement.

• #39

  https://crcp.tums.ac.ir/index.php/crcp/article/view/831

  Alkaptonuria is characterized by the accumulation of homogentisic acid [HGA] in tissues, leading to a distinctive blue-black pigmentation and early joint degeneration. […] Pre- and post-operative care was guided by the patients comorbidities and potential complications related to alkaptonuria, including potential cardiac and respiratory issues. […] The paper also discusses the challenges in diagnosing alkaptonuria, the absence of definitive treatment, and the potential of dietary restrictions and symptomatic treatments. […] Moreover, it addresses surgical considerations for ochronotic arthropathy and emphasizes the role of regular calcium and vitamin D intake in maintaining bone quality. […] The success of the hip replacement surgery in this case suggests a potential intervention for managing ochronotic arthropathy in alkaptonuria patients.

• #40

  https://journals.lww.com/joacp/fulltext/2011/27020/perioperative_management_of_patient_with.25.aspx

  Alkaptonuria is a rare inherited genetic disorder of tyrosine metabolism characterized by a triad of homogentisic aciduria, ochronosis, and arthritis. […] We want to highlight the need of thorough preoperative evaluation in patients of alkaptonuria, as it is associated with multiple comorbidities. […] Care of the patient with alkaptonuric ochronosis is complex and challenging. […] A thorough evaluation of the type and severity of systemic dysfunction is essential before administration of anesthesia. […] The deposition of pigments makes the cartilage of the joints prone to destruction and makes the joints painful. […] The patient was positioned carefully, and pressure points were adequately padded to prevent any undue pressure on the diseased joints. […] Cardiovascular abnormalities such as calcified and stenotic valves, generalized atherosclerosis, and conduction blocks may also be associated with ochronosis. […] To conclude, alkaptonuric patients may have multiple associated comorbidities mandating a thorough preoperative evaluation.

• #41

  https://111.wales.nhs.uk/encyclopaedia/a/article/alkaptonuria

  Alkaptonuria is a lifelong condition. […] A medicine called nitisinone is used to slow the advance of alkaptonuria in adults. […] Painkillers and lifestyle changes may help you cope with the symptoms. […] Nitisinone reduces the level of homogentisic acid in the body. […] A protein-controlled diet can also be useful in reducing the risk of potential side effects of nitisinone during adulthood. […] If alkaptonuria causes pain and stiffness, you may think exercise will make your symptoms worse. But regular gentle exercise can actually help by building muscle and strengthening your joints. […] Speak to doctor about painkillers and other techniques to manage pain. […] A diagnosis of alkaptonuria can be confusing and overwhelming at first. […] Sometimes surgery may be necessary if joints are damaged and need replacing, or if heart valves or vessels have hardened. […] People with alkaptonuria have a normal life expectancy. However, they will usually experience severe symptoms, such as pain and loss of movement in the joints, which considerably affect quality of life.

• #42 Alkaptonuria

  https://www.nhs.uk/conditions/alkaptonuria/

  Your doctor may recommend: hip replacement, knee replacement, aortic valve replacement. […] People with alkaptonuria have a normal life expectancy. However, they will eventually experience symptoms, such as pain and loss of movement in the joints and spine, which can affect quality of life. […] Working and carrying out strenuous physical activity will usually become very difficult, and eventually you may need mobility aids such as a wheelchair to get around.

• #43 What Happens in Alkaptonuria?

  https://www.medicinenet.com/what_happens_in_alkaptonuria/article.htm

  Patients with alkaptonuria have a normal life expectancy but with a lesser quality of life. […] However, pain can be constant, and progressive functional decline is observed with a loss of mobility. […] Patients often require the use of physical aids (crutches and wheelchair). […] Cardiac complications are often life-threatening and may worsen the prognosis.

• #44 Child nursing: Alkaptonuria – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/nursing-educators-toolkit/child-nursing-alkaptonuria/

  My children have a rare and serious rare recessive genetic condition called alkaptonuria (AKU). AKU is caused by a missing enzyme that leads to the accumulation of a substance known as homogentisic acid, which leads to cartilage damage, heart problems and a host of other health issues. […] When the results came in, our GP told us not to worry, that the disease wasnt very serious and recommended that we avoid searching for AKU on the internet because it would make us worried. However, we did and we obtained much more information than our GP gave us. […] We didnt get any support from nurses, genetic specialists or any other healthcare professionals at the point of diagnosis. I think any extra support would have helped. For me, it was particularly important to have a detailed and clear explanation of the illness and its causes, but the doctors were only prepared to give us a few minutes maximum.

• #45 Child nursing: Alkaptonuria – Genomics Education Programme

  https://www.genomicseducation.hee.nhs.uk/nursing-educators-toolkit/child-nursing-alkaptonuria/

  So, if nurses and doctors could spend time even just half an hour taking us through the basics of what causes the genetic disease and the current state of research, that would help. […] Patient support groups are an important source of information, not only for those affected but also for healthcare professionals.

• #46 HIE Multimedia – Alkaptonuria

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001200

  Management of alkaptonuria has traditionally been focused on controlling symptoms. Eating a low protein diet may be helpful, but many people find this restriction difficult. Medicines, such as NSAIDs and physical therapy may help relieve joint pain. […] 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. […] Genetic counseling is recommended for people with a family history of alkaptonuria who are considering having children.

• #47 Alkaptonuria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/alkaptonuria

  Management of alkaptonuria has traditionally been focused on controlling symptoms. Eating a low protein diet may be helpful, but many people find this restriction difficult. Medicines, such as NSAIDs and physical therapy may help relieve joint pain. […] 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. […] Genetic counseling is recommended for people with a family history of alkaptonuria who are considering having children. 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.

• #48 Alkaptonuria Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/alkaptonuria

  Management of alkaptonuria has traditionally been focused on controlling symptoms. Eating a low protein diet may be helpful, but many people find this restriction difficult. Medicines, such as NSAIDs and physical therapy may help relieve joint pain. […] 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. […] Genetic counseling is recommended for people with a family history of alkaptonuria who are considering having children. 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.

• #49 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. […] In Alkaptonuria, the body has a genetic mutation that causes a deficit in the enzyme that breaks down a compound called homogentisic acid. Over time, this acid builds up to eventually cause a variety of health problems, including joint pain and arthritis, darkening of several body areas, and even serious heart complications. Connective tissues, eyes, and even bones can turn blue or black, earning this weeks Zebra the nickname Black Bone Disease. […] 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.

• #50 National AKU Centre (NAC) | AKU

  https://akusociety.org/nac/

  Many people diagnosed with alkaptonuria (AKU) have difficulty accessing efficient and effective care to treat their AKU. […] The Robert Gregory National Alkaptonuria Centre exists to change this. It is needed to ensure that everyone with AKU has access to a knowledgeable team of specialists who can manage their care efficiently. […] Patients who attend the National AKU Centre will receive: A full health assessment and treatment of AKU, Access to the drug nitisinone, Advice on living with and managing the disease. […] Once a diagnosis of AKU has been confirmed a GP or other relevant medical professional can make a referral to the National AKU Centre. […] If it is deemed that such services are not available a referral to the NAC is agreed and the Gatekeeper will apply to the Welsh Health Specialised Services Committee for funding.

• #51 National AKU Centre (NAC) | AKU

  https://akusociety.org/nac/

  Many people diagnosed with alkaptonuria (AKU) have difficulty accessing efficient and effective care to treat their AKU. […] The Robert Gregory National Alkaptonuria Centre exists to change this. It is needed to ensure that everyone with AKU has access to a knowledgeable team of specialists who can manage their care efficiently. […] Patients who attend the National AKU Centre will receive: A full health assessment and treatment of AKU, Access to the drug nitisinone, Advice on living with and managing the disease. […] Once a diagnosis of AKU has been confirmed a GP or other relevant medical professional can make a referral to the National AKU Centre. […] If it is deemed that such services are not available a referral to the NAC is agreed and the Gatekeeper will apply to the Welsh Health Specialised Services Committee for funding.

• #52 National AKU Centre (NAC) | AKU

  https://akusociety.org/nac/

  Many people diagnosed with alkaptonuria (AKU) have difficulty accessing efficient and effective care to treat their AKU. […] The Robert Gregory National Alkaptonuria Centre exists to change this. It is needed to ensure that everyone with AKU has access to a knowledgeable team of specialists who can manage their care efficiently. […] Patients who attend the National AKU Centre will receive: A full health assessment and treatment of AKU, Access to the drug nitisinone, Advice on living with and managing the disease. […] Once a diagnosis of AKU has been confirmed a GP or other relevant medical professional can make a referral to the National AKU Centre. […] If it is deemed that such services are not available a referral to the NAC is agreed and the Gatekeeper will apply to the Welsh Health Specialised Services Committee for funding.

• #53 Alkaptonuria Disease: Symptoms, Causes and Treatment

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

  Research into potential gene therapies and pharmacological interventions for Alkaptonuria is ongoing, with the aim of developing targeted treatments that address the underlying genetic mutations responsible for the condition. Clinical trials and studies are essential in advancing our understanding of Alkaptonuria and exploring novel therapeutic approaches.

• #54 Homogentisic Acid in Alkaptonuria: Unraveling the Metabolic Intri

  https://www.primescholars.com/articles/homogentisic-acid-in-alkaptonuria-unraveling-the-metabolic-intricacies-of-a-rare-disorder-125573.html

  Early diagnosis is paramount, as it allows for proactive management strategies and interventions to mitigate the progression of symptoms and complications associated with alkaptonuria. […] As of now, management strategies for alkaptonuria primarily focus on symptomatic relief and preventive measures. […] Research efforts are ongoing to explore potential pharmacological interventions that target the metabolic pathways involved in alkaptonuria. […] While challenges persist in managing this rare disorder, ongoing research endeavors offer glimpses of hope for improved therapeutic strategies, shedding light on the complex interplay between genetics, metabolism, and clinical manifestations in alkaptonuria.

• #55 Preventive use of nitisinone in alkaptonuria | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01977-0

  Alkaptonuria (AKU, OMIM 203500) is a rare congenital disorder caused by a deficiency of the enzyme homogentisate-1,2,-dioxygenase. The long-term consequences of AKU are joint problems, cardiac valve abnormalities and renal problems. Landmark intervention studies with nitisinone 10 mg daily, suppressing an upstream enzyme activity, demonstrated its beneficial effects in AKU patients with established complications, which usually start to develop in the fourth decade. Lower dose of nitisinone in the range of 0.22 mg daily will already reduce urinary homogentisic acid (uHGA) excretion by 90%, which may prevent AKU-related complications earlier in the course of the disease while limiting the possibility of side-effects related to the increase of plasma tyrosine levels caused by nitisinone. Future preventive studies should establish the lowest possible dose for an individual patient, the best age to start treatment and also collect evidence to which level uHGA excretion should be reduced to prevent complications.

• #56 Preventive use of nitisinone in alkaptonuria | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01977-0

  Nitisinone doses lower than those used in the recently published intervention studies may be helpful to prevent the development of complications, instead of combatting these once they are clinically evident. Early low-dose preventive treatment may postpone complications and prevent the necessity for joint replacements or cardiac valve repair or replacement, while in the same time there may be a lower risk of drug-related side-effects. […] Important questions such as the optimal age at start of treatment, the desired dose of nitisinone and the need of a diet need to be addressed in our conversations with patients. When started early in the course of the disease, for instance in the third decade or even earlier, treatment with nitisinone perhaps at even lower doses than used in the intervention studies may be able to prevent the development of the long-term consequences as a result of its HGA-reducing properties.

• #57 Preventive use of nitisinone in alkaptonuria | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01977-0

  Thus, treatment with low dose nitisinone may be a game changer in the prevention of AKU-related complications, and allow an individual approach in young AKU patients. Future studies are needed to address whether it is mandatory to reduce urinary HGA concentrations to those in normal individuals, and which other factors may determine the degree of residual harm caused by slightly elevated HGA concentrations.

• #58 Preventive use of nitisinone in alkaptonuria | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01977-0

  Thus, treatment with low dose nitisinone may be a game changer in the prevention of AKU-related complications, and allow an individual approach in young AKU patients. Future studies are needed to address whether it is mandatory to reduce urinary HGA concentrations to those in normal individuals, and which other factors may determine the degree of residual harm caused by slightly elevated HGA concentrations.

• #59 Alkaptonuria – StatPearls – NCBI Bookshelf

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

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] The management of AKU is ideally done by the healthcare professional team that involves a nurse, ophthalmology, biochemical geneticist, physical therapist, rheumatologist, orthopedic surgeon, a cardiologist for older patients, pain specialist, pharmacist, and an internist. […] 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. […] A multi-disciplinary approach aimed at improving the quality of life and reducing morbidity should be the priority in treating AKU patients.

• #60 Alkaptonuria – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/alkaptonuria/

  Alkaptonuria is a rare inherited disorder that often shows no signs of it being present in the family. […] A distinct sign of alkaptonuria, especially in children, is the darkening of urine when exposed to the air for a prolonged time. […] Other common symptoms are arthritis, specifically affecting the spine, hips, and knees. […] Nearly everyone with Alkaptonuria will eventually develop arthritis. […] The disease can manifest in many ways these are often grouped into three major categories, namely ochronosis, homogenistic aciduria, and ochronotic osteoarthropathy. […] Ochronotic arthropathy, or joint disease, develops due to a buildup of homogentisic acid polymers in the cartilage that cushions the joints. […] The main goal of treatment is to minimize the buildup of a substance called homogentisic acid (HGA), which causes issues in the body.

• #61 Alkaptonuria – StatPearls – NCBI Bookshelf

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

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] The management of AKU is ideally done by the healthcare professional team that involves a nurse, ophthalmology, biochemical geneticist, physical therapist, rheumatologist, orthopedic surgeon, a cardiologist for older patients, pain specialist, pharmacist, and an internist. […] 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. […] A multi-disciplinary approach aimed at improving the quality of life and reducing morbidity should be the priority in treating AKU patients.

• #62 Alkaptonuria – StatPearls – NCBI Bookshelf

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

  Alkaptonuria is a rare genetic inborn error of protein metabolism. […] Early diagnosis is the key to managing alkaptonuria effectively. […] The management of AKU is ideally done by the healthcare professional team that involves a nurse, ophthalmology, biochemical geneticist, physical therapist, rheumatologist, orthopedic surgeon, a cardiologist for older patients, pain specialist, pharmacist, and an internist. […] 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. […] A multi-disciplinary approach aimed at improving the quality of life and reducing morbidity should be the priority in treating AKU patients.

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