Biochemical and molecular confirmation of alkaptonuria in a Sumatran orangutan (Pongo abelii)

A 6-yr-old female orangutan presented with a history of dark urine that turned brown upon standing since birth. Repeated routine urinalysis and urine culture were unremarkable. Urine organic acid analysis showed elevation in homogentisic acid consistent with alkaptonuria. Sequence analysis identifie...

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Published inMolecular genetics and metabolism Vol. 139; no. 3; p. 107628
Main Authors Fayette, Melissa A., Booth, Kevin T.A., Lynnes, Ty C., Luna, Carolina, Minich, David J., Wilson, Theodore E., Miller, Marcus J.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.07.2023
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Summary:A 6-yr-old female orangutan presented with a history of dark urine that turned brown upon standing since birth. Repeated routine urinalysis and urine culture were unremarkable. Urine organic acid analysis showed elevation in homogentisic acid consistent with alkaptonuria. Sequence analysis identified a homozygous missense variant, c.1081G>A (p.Gly361Arg), of the homogentisate 1,2-dioxygenase (HGD) gene. Familial studies, molecular modeling, and comparison to human variant databases support this variant as the underlying cause of alkaptonuria in this orangutan. This is the first report of molecular confirmation of alkaptonuria in a nonhuman primate.
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ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2023.107628