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

Melissa A Fayette; Kevin T A Booth; Ty C Lynnes; Carolina Luna; David J Minich; Theodore E Wilson; Marcus J Miller

doi:10.1016/j.ymgme.2023.107628

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

Mol Genet Metab. 2023 Jul;139(3):107628. doi: 10.1016/j.ymgme.2023.107628. Epub 2023 Jun 15.

Authors

Melissa A Fayette¹, Kevin T A Booth², Ty C Lynnes², Carolina Luna², David J Minich¹, Theodore E Wilson², Marcus J Miller³

Affiliations

¹ Indianapolis Zoo, Indianapolis, IN 46222, USA.
² Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA.
³ Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis, IN 46202, USA. Electronic address: majamill@IU.edu.

PMID: 37354891
DOI: 10.1016/j.ymgme.2023.107628

Abstract

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.

Keywords: Alkaptonuria; Homogentisate 1,2-dioxygenase; Orangutan; Pongo abelii.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alkaptonuria* / diagnosis
Alkaptonuria* / genetics
Animals
Female
Homogentisic Acid
Homozygote
Humans
Mutation, Missense
Pongo abelii* / genetics

Substances

Homogentisic Acid