OMIA 002030-100936 : Glycine encephalopathy in Chlorocebus aethiops vervet
Possibly relevant human trait(s) and/or gene(s) (MIM number): 605899 Mendelian trait/disorder: unknown Considered a defect: yes Cross-species summary: Also known as Non-ketotic hyperglycinaemia (NKH) 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."
|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.|
- Created by Frank Nicholas on 12 Aug 2016