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Article

An update on molecular genetics of Alkaptonuria (AKU).

Journal of inherited metabolic disease - 1 Dec 2011

Zatkova Andrea

Abstract excerpt

Alkaptonuria (AKU) is an autosomal recessive disorder caused by a deficiency of homogentisate 1,2 dioxygenase (HGD) and characterized by homogentisic aciduria, ochronosis, and ochronotic arthritis. The defect is caused by mutations in the HGD gene, which maps to the human chromosome 3q21-q23. AKU...

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Source

Identifiers

PMID: 21720873
DOI: 10.1007/s10545-011-9363-z

Genes

HGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21720873-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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