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Alcaptonuria

 
 

Alcaptonuria


OVERVIEW:

Inborn aminoacidopathy due to defective homogentisate 1,2-dioxygenase. The accumulation of homogentisic acid leads to homogentisic aciduria causing the urine to turn dark brown on standing or alkalinization. Other characteristics include ochronosis and arthritis Usual course - asymptomatic until adulthood; progressive.

CAUSES:

• homogentisic acid oxidase activity
• increased homogentisic acid

TREATMENT


• supportive rehabilitation

MISCELLANEOUS

SYNONYMS:

• homogentisic aciduria

ICD-9-CM:

270.2 other disturbances of aromatic amino acid metabolism

(see images)




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