Misdiagnosis of alkaptonuria in an elderly patient

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Alkaptonuria.

Alkaptonuria (AKU) is a rare disorder of autosomal recessive inheritance. It is caused by a mutation in a gene that results in the accumulation of homogentisic acid (HGA). Characteristically, the excess HGA means sufferers pass dark urine, which upon standing turns black. This is a feature present from birth. Over time patients develop other manifestations of AKU, due to deposition of HGA in co...

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Alkaptonuria in a 6 Year Old Patient: Case Report

Alkaptonuria is a rare disorder of tyrosine catabolism. A 6 year old male child presented with history of darkish staining of the toilet commode following voiding. The urine when kept in a sterile container for a few hours turned black. Urine examination showed massive amounts of homogentisic acid. Patient was diagnosed as alkaptonuria.

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ژورنال

عنوان ژورنال: Journal of Research and Practice on the Musculoskeletal System

سال: 2018

ISSN: 2585-2787

DOI: 10.22540/jrpms-02-007