Article

A Compendium of manually annotated genetic variants for Alkaptonuria-AKUHub

2023-02-23

Abstract excerpt

1. Alkaptonuria or ‘black urine disease’ is a rare autosomal recessive disorder caused by dysfunctional homogentisate 1,2-dioxygenase (HGD) gene (3q13.33) leading to accumulation of homogentisic acid in the body. This inborn error in metabolism of phenylalanine and tyrosine causes accumulation of homogentisic acid leading to ochronosis, pigmentation in the sclera, ear cartilage, mitral valve calcification and oste...

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Literature Corpus work: a6ff7960-107b-5077-a033-4d2494da47e8
DOI: 10.1101/2023.02.21.23286262

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