OMIA:002030-9534 : Cataract and non-ketotic hyperglycinaemia in Chlorocebus aethiops (grivet)
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 605899 (trait)
Links to MONDO diseases: No links.
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."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|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
- Changed by Imke Tammen2 on 21 Sep 2023