Categories: Vision / eye phene

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

Mendelian trait/disorder: unknown

Disease-related: 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."