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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Bibliographic Details
Published in:Molecular genetics and metabolism 2023-07, Vol.139 (3), p.107628-107628, Article 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: Article
Language:English
Subjects:
Alkaptonuria
Homogentisate 1,2-dioxygenase
Orangutan
Pongo abelii
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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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2023.107628