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Article

Three-generational alkaptonuria in a non-consanguineous family.

Journal of inherited metabolic disease - 1 Dec 2008

Oexle K, Engel K, Tinschert S, Haas D, Lee-Kirsch M A

Abstract excerpt

OBJECTIVE: Alkaptonuria (AKU) is a rare inborn error of metabolism of aromatic amino acids and considered to be an autosomal recessive trait caused by mutations in the homogentisate 1,2-dioxygenase (HGD) gene. A dominant pattern of inheritance has been reported but was attributed to extended consanguinity in many cases. However, we have observed a non-consanguineous family segregating AKU in a dominant manner...

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Source

Identifiers

PMID: 19096913
DOI: 10.1007/s10545-008-0994-7

Genes

HGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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