Materiały źródłowe

• #1 Alkaptonuria – DoveMed

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

  Currently, there are no specific methods or guidelines to prevent Alkaptonuria, since it is a genetic condition […] Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy […] If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child […] Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders.

• #2 Disease – Alkaptonuria

  https://ssl.adam.com/content.aspx?productid=117&isarticlelink=false&pid=1&gid=001200&site=makatimed.adam.com&login=MAKA1603

  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.

• #3 Alkaptonuria – DoveMed

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

  Currently, there are no specific methods or guidelines to prevent Alkaptonuria, since it is a genetic condition […] Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy […] If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child […] Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders.

• #4 Disease – Alkaptonuria

  https://ssl.adam.com/content.aspx?productid=117&isarticlelink=false&pid=1&gid=001200&site=makatimed.adam.com&login=MAKA1603

  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.

• #5 Disease – Alkaptonuria

  https://ssl.adam.com/content.aspx?productid=117&isarticlelink=false&pid=1&gid=001200&site=makatimed.adam.com&login=MAKA1603

  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.

• #6 Alkaptonuria | Doctor

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

  It is not possible to identify heterozygous carriers yet and prenatal screening is not available. Testing for carriers with a tyrosine load may give results but, as some have 50% of normal enzyme activity, it is unsatisfactory. […] 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. […] In older children and adults vitamin C, up to 1 g daily, is said to retard the conversion of homogentisic acid to the polymer that is deposited in tissues. […] Nitisinone is an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, which mediates formation of homogentisic acid. Use has been reported to reduce excretion of the product but long-term safety is unproven.

• #7 Alkaptonuria | Doctor

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

  It is not possible to identify heterozygous carriers yet and prenatal screening is not available. Testing for carriers with a tyrosine load may give results but, as some have 50% of normal enzyme activity, it is unsatisfactory. […] 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. […] In older children and adults vitamin C, up to 1 g daily, is said to retard the conversion of homogentisic acid to the polymer that is deposited in tissues. […] Nitisinone is an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, which mediates formation of homogentisic acid. Use has been reported to reduce excretion of the product but long-term safety is unproven.

• #8 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. […] 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.

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

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

  The safer and better tolerated any treatment will be, the more likely physicians are willing to prescribe the drug and the more likely patients will be able to maintain this medication and benefit from the preventive effects. […] 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.

• #10 Managing Alkaptonuria in Absence of Appropriate Medication: A Case Report and Review of Literature

  http://www.clinmedres.org/content/22/2/107.full

  Our patient suffered from disease worsening due to unavailability of nitisinone in Pakistan. […] It is therefore suggested that nitisinone become available in developing countries like Pakistan, so that the few patients who actually have alkaptonuria can receive effective treatment early on in life to prevent the chronic systemic effects of it, as has been encouraged by published studies. […] The main role of nitisinone is in the prevention of ochronosis by preventing HGA build up in the body, thus preventing HGA mediated changes.

• #11 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. […] 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.

• #12 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. […] 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.

• #13 Alkaptonuria

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

  A medicine called nitisinone is used to slow the advance of alkaptonuria in adults. […] A protein-controlled diet can be useful in reducing the risk of potential side effects when taking nitisinone for alkaptonuria during adulthood. Your doctor or dietitian will assess and advise you about this. […] 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. Like many people with a long-term health condition, those who find out they have alkaptonuria may feel anxious or depressed. […] Sometimes surgery may be necessary if joints are damaged and need replacing, or if heart valves or vessels have hardened.

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

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

  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. […] 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.

• #15 Alkaptonuria | Doctor

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

  It is not possible to identify heterozygous carriers yet and prenatal screening is not available. Testing for carriers with a tyrosine load may give results but, as some have 50% of normal enzyme activity, it is unsatisfactory. […] 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. […] In older children and adults vitamin C, up to 1 g daily, is said to retard the conversion of homogentisic acid to the polymer that is deposited in tissues. […] Nitisinone is an inhibitor of the enzyme 4-hydroxyphenylpyruvate dioxygenase, which mediates formation of homogentisic acid. Use has been reported to reduce excretion of the product but long-term safety is unproven.

• #16 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. […] A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression. […] 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. […] 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. […] 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.

• #17 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. […] A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression. […] 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. […] 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. […] 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.

• #18 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. […] A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression. […] 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. […] 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. […] 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.

• #19

  https://link.springer.com/article/10.1007/s10545-015-9888-7

  A series of publications reported in this issue of the JIMD addresses some of these gaps in our knowledge of AKU. […] Also in this volume, Arnoux et al (2015) summarise the place of diet and allied treatments, and proposes a sequential treatment strategy starting from childhood in alkaptonuria. This is clearly a logical approach in a disease markedly influenced by protein intake although long-term compliance can be challenging. […] Antioxidant strategies are unproven in long-term human experience such as when ascorbic acid is used (Phornphutkul et al 2002). In addition, safety of long-term anti-oxidant approaches has been questioned (Vivekananthan et al 2003).

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

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

  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. […] 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.

• #21 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. […] A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression. […] 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. […] 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. […] 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 Treatment Methods | DocHospitals

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

  Reduce consumption of foods rich in tyrosine and phenylalanine, such as milk, meat and eggs. […] People with alkaptonuria should avoid foods containing excess tyrosine and phenylalanine. Patients should pay attention to their diet as there are problems in tyrosine and phenylalanine metabolism. […] Eating according to the recommended diet helps to reduce the patient’s symptoms.

• #23 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. […] A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression. […] 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. […] 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. […] 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.

• #24 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. […] A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression. […] 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. […] 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. […] 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.

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

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

  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. […] 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.

• #26

  https://link.springer.com/article/10.1007/s10545-015-9888-7

  A series of publications reported in this issue of the JIMD addresses some of these gaps in our knowledge of AKU. […] Also in this volume, Arnoux et al (2015) summarise the place of diet and allied treatments, and proposes a sequential treatment strategy starting from childhood in alkaptonuria. This is clearly a logical approach in a disease markedly influenced by protein intake although long-term compliance can be challenging. […] Antioxidant strategies are unproven in long-term human experience such as when ascorbic acid is used (Phornphutkul et al 2002). In addition, safety of long-term anti-oxidant approaches has been questioned (Vivekananthan et al 2003).

• #27 Alkaptonuria: Causes, Symptoms, and Prevention

  https://drgalen.org/medical-treatment/alkaptonuria

  While alkaptonuria does not have a cure, several treatment strategies aim to manage its symptoms and improve the quality of life for affected individuals. One approach involves dietary modifications, specifically adopting a low-protein diet. Since alkaptonuria is linked to the metabolism of certain amino acids, reducing protein intake may help decrease the production of homogentisic acid. However, it is crucial for individuals to undertake such dietary changes under the guidance of healthcare professionals to ensure they receive adequate nutrition. […] Prevention of complications is another significant advantage of treating alkaptonuria. By actively managing the condition, healthcare professionals can help individuals avoid or delay the onset of complications associated with ochronosis. Timely intervention can make a substantial difference in the progression of joint problems and cardiovascular issues.

• #28 Spontaneous Achilles tendon rupture in alkaptonuria | Saudi Medical Journal

  https://smj.org.sa/content/36/12/1486

  Alkaptonuria patients should avoid strenuous exercises and foot straining especially in patients developing early orthopedic manifestations. […] A combination of protein restriction diet, vitamin C and nitisinone is suggested to delay the onset and progression of these complications. […] Therefore, patients of AKU have the responsibility to be aware of their illness and its significant morbidity and potential complications. Avoidance of strenuous exercises and foot straining is the main recommendation especially in patients developing early orthopedic manifestations.

• #29 Alkaptonuria

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

  A medicine called nitisinone is used to slow the advance of alkaptonuria in adults. […] A protein-controlled diet can be useful in reducing the risk of potential side effects when taking nitisinone for alkaptonuria during adulthood. Your doctor or dietitian will assess and advise you about this. […] 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. Like many people with a long-term health condition, those who find out they have alkaptonuria may feel anxious or depressed. […] Sometimes surgery may be necessary if joints are damaged and need replacing, or if heart valves or vessels have hardened.

• #30 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. […] There are many therapies that have been tried, but unfortunately they havent been proven to be effective, and may be harmful or unhelpful in the long term. […] Other treatments for alkaptonuria are focused on preventing and relieving possible complications, such as: arthritis, heart disease, kidney stones. […] You should also avoid activities that put a lot of strain on your joints, such as heavy manual labor and contact sports. […] Some of these complications can be delayed with regular checkups. Your doctor will want to monitor you regularly.

• #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. […] There are many therapies that have been tried, but unfortunately they havent been proven to be effective, and may be harmful or unhelpful in the long term. […] Other treatments for alkaptonuria are focused on preventing and relieving possible complications, such as: arthritis, heart disease, kidney stones. […] You should also avoid activities that put a lot of strain on your joints, such as heavy manual labor and contact sports. […] Some of these complications can be delayed with regular checkups. Your doctor will want to monitor you regularly.

• #32 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. […] Onset of clinical symptoms and ochronosis starts before adult age but timely detection at paediatric age is useful in prevention of ochronotic arthropathy. […] 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. […] Also simple quick and precise chemical methods described for detection of HGA in urine will remove phobia and increased awareness among people for detection of the disease so that any complications of ochronosis or arthroplasty can be avoided in latter age. […] 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. There are other advanced modern methods available now but looking into patients benefit and economy they are not adding any extra value for patients. Though symptoms and ochronotic complication appear at early adult age, detection of this rare disease by such simple tests at paediatric age will help to delay the complication by providing proper clinical help.

• #33 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. […] Onset of clinical symptoms and ochronosis starts before adult age but timely detection at paediatric age is useful in prevention of ochronotic arthropathy. […] 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. […] Also simple quick and precise chemical methods described for detection of HGA in urine will remove phobia and increased awareness among people for detection of the disease so that any complications of ochronosis or arthroplasty can be avoided in latter age. […] 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. There are other advanced modern methods available now but looking into patients benefit and economy they are not adding any extra value for patients. Though symptoms and ochronotic complication appear at early adult age, detection of this rare disease by such simple tests at paediatric age will help to delay the complication by providing proper clinical help.

• #34 Family

  https://patents.google.com/patent/WO2017144583A1/en

  the present invention relates to a compound of formula I or II for use in the prevention and/or treatment of a disease characterized by accumulation of homogentisic acid (HGA) or of succinyl acetoacetate and succinylacetone: […] the present invention provides a compound of formula I or II for use in the prevention and/or treatment of a disease characterized by accumulation of homogentisic acid (HGA) or of succinyl acetoacetate and succinylacetone: […] the present invention provides a compound of formula I or II for use in the prevention and/or treatment of a disease characterized by accumulation of homogentisic acid (HGA) or of succinyl acetoacetate and succinylacetone: […] the present invention provides a compound of formula I or II for use in the prevention and/or treatment of a disease characterized by accumulation of homogentisic acid (HGA) or of succinyl acetoacetate and succinylacetone:

• #35

  https://link.springer.com/article/10.1007/s10545-015-9888-7

  A series of publications reported in this issue of the JIMD addresses some of these gaps in our knowledge of AKU. […] Also in this volume, Arnoux et al (2015) summarise the place of diet and allied treatments, and proposes a sequential treatment strategy starting from childhood in alkaptonuria. This is clearly a logical approach in a disease markedly influenced by protein intake although long-term compliance can be challenging. […] Antioxidant strategies are unproven in long-term human experience such as when ascorbic acid is used (Phornphutkul et al 2002). In addition, safety of long-term anti-oxidant approaches has been questioned (Vivekananthan et al 2003).

• #36 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. […] 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.

• #37 Alkaptonuria – News and Latest Updates

  https://medicalxpress.com/conditions/alkaptonuria/

  Scientists at the University of Liverpool have found that a drug treatment administered at the earliest signs of a rare genetic disease could prevent the condition from developing in later life. […] Treatment with nitisinone, which suppresses homogentisic acid production, is being studied.

• #38 Alkaptonuria – DoveMed

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

  Currently, there are no specific methods or guidelines to prevent Alkaptonuria, since it is a genetic condition […] Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy […] If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child […] Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders.

• #39 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. […] Onset of clinical symptoms and ochronosis starts before adult age but timely detection at paediatric age is useful in prevention of ochronotic arthropathy. […] 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. […] Also simple quick and precise chemical methods described for detection of HGA in urine will remove phobia and increased awareness among people for detection of the disease so that any complications of ochronosis or arthroplasty can be avoided in latter age. […] 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. There are other advanced modern methods available now but looking into patients benefit and economy they are not adding any extra value for patients. Though symptoms and ochronotic complication appear at early adult age, detection of this rare disease by such simple tests at paediatric age will help to delay the complication by providing proper clinical help.

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

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

  The safer and better tolerated any treatment will be, the more likely physicians are willing to prescribe the drug and the more likely patients will be able to maintain this medication and benefit from the preventive effects. […] 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.

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

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

  The safer and better tolerated any treatment will be, the more likely physicians are willing to prescribe the drug and the more likely patients will be able to maintain this medication and benefit from the preventive effects. […] 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.

• #42 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. […] 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.

• #43 Alkaptonuria

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

  A medicine called nitisinone is used to slow the advance of alkaptonuria in adults. […] A protein-controlled diet can be useful in reducing the risk of potential side effects when taking nitisinone for alkaptonuria during adulthood. Your doctor or dietitian will assess and advise you about this. […] 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. Like many people with a long-term health condition, those who find out they have alkaptonuria may feel anxious or depressed. […] Sometimes surgery may be necessary if joints are damaged and need replacing, or if heart valves or vessels have hardened.

• #44 Spontaneous Achilles tendon rupture in alkaptonuria | Saudi Medical Journal

  https://smj.org.sa/content/36/12/1486

  Alkaptonuria patients should avoid strenuous exercises and foot straining especially in patients developing early orthopedic manifestations. […] A combination of protein restriction diet, vitamin C and nitisinone is suggested to delay the onset and progression of these complications. […] Therefore, patients of AKU have the responsibility to be aware of their illness and its significant morbidity and potential complications. Avoidance of strenuous exercises and foot straining is the main recommendation especially in patients developing early orthopedic manifestations.

• #45 Alkaptonuria: Causes, Symptoms, and Prevention

  https://drgalen.org/medical-treatment/alkaptonuria

  While alkaptonuria does not have a cure, several treatment strategies aim to manage its symptoms and improve the quality of life for affected individuals. One approach involves dietary modifications, specifically adopting a low-protein diet. Since alkaptonuria is linked to the metabolism of certain amino acids, reducing protein intake may help decrease the production of homogentisic acid. However, it is crucial for individuals to undertake such dietary changes under the guidance of healthcare professionals to ensure they receive adequate nutrition. […] Prevention of complications is another significant advantage of treating alkaptonuria. By actively managing the condition, healthcare professionals can help individuals avoid or delay the onset of complications associated with ochronosis. Timely intervention can make a substantial difference in the progression of joint problems and cardiovascular issues.

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