OMIA:002030-9534 : Cataract and non-ketotic hyperglycinaemia in Chlorocebus aethiops (grivet)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605899 (trait)

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: In humans, non-ketotic hyperglycinaemia is also known as glycine encephalopathy

History: Chauke et al. (2016) confirmed "the diagnosis of NKH for the first time in vervet monkeys with cataracts"

Inheritance: Given that this disorder is an inborn error of metabolism, it is most likely to be autosomal recessive.

Molecular basis: Chauke et al. (2016): "Although deleterious effects of the three amino acid substitutions were not evaluated, one substitution of GLDC gene (S44R) could be disease-causing because of its drastic amino acid change, affecting amino acids conserved in different primate species."

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002030-9534: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2016 Chauke, C.G., Magwebu, Z.E., Sharma, J.R., Arieff, Z., Seier, J.V. :
Mutation analysis of GLDC, AMT and GCSH in cataract captive-bred vervet monkeys (Chlorocebus aethiops). J Med Primatol 45:189-194, 2016. Pubmed reference: 27325422. DOI: 10.1111/jmp.12219.

Edit History

  • Created by Frank Nicholas on 12 Aug 2016
  • Changed by Imke Tammen2 on 21 Sep 2023