SYNO | alcaptonuria | alkaptonuria |
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Anwendungsbeispiele Englisch
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- This is due to the possibility of a reaction in which the presence of other reducing substances such as ascorbic acid, drugs (levodopa, contrast used in radiological procedures) and homogentisic acid (alkaptonuria) creates a false positive.
- Nitisinone is being studied as a treatment for alkaptonuria.
- If the diagnosis of alkaptonuria is suspected, it can be confirmed or excluded by collecting urine for 24 hours and determining the amount of homogentisic acid by means of chromatography.
- HPPD can be linked to one of the oldest known inherited metabolic disorders known as alkaptonuria, which is caused by high levels of homogentisate in the blood stream.
- Accumulation of excess homogentisic acid and its oxide, named alkapton, is a result of the failure of the enzyme homogentisic acid 1,2-dioxygenase (typically due to a mutation) in the degradative pathway of tyrosine, consequently associated with alkaptonuria.
- The condition is most often associated with alkaptonuria, but can occur from exogenous administration of phenol complexes such as hydroquinone.
- Working with William Bateson, Garrod came to understand the pattern of alkaptonuria appearance in children based on Mendelian principles.
- He performed investigations of salicylic acid as well as research on the effects of mercury; conducted studies on alkaptonuria, liver disease, diseases of the genitourinary system and acute infectious diseases.
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