A Case Report of Diaper Staining Since Birth: Rare Metabolic Disorder Alkaptonur
Journal Title: The Indian Journal of Maternal-Fetal and Neonatal Medicine - Year 2017, Vol 4, Issue 2
Abstract
Alkaptonuria is a rare metabolic autosomal recessive disorder caused by deficiency of homogentisic acid oxidase [1]. A three old female child presented with history of staining of diaper since birth and during treatment underwent battery of scanning and investigations. Diagnosis was suspected when urine turned black when kept in a sterile container. Her urine examination showed homogentisic acid. Patient was diagnosed alkaptonuria.
Authors and Affiliations
Deeksha Shakywal
Keywords
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- EP ID EP454935
- DOI 10.21088/ijmfnm.2347.999X.4217.19
- Views 84
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