Intellectual disability update Jan 2018

Gene: NADK2

PMID: 24847004 - a terminating variant in this gene was identified in a boy who presented in early infancy with a severe encephalopathy, developmental delay, movement abnormalities, and lactic acidosis. NAD kinase is crucial NADP biosynthesis evidenced by decreased mitochondrial NADP(H) levels in patient fibroblasts > DECR and the first step in lysine degradation are performed by NADP-dependent oxidoreductases explaining their in vivo deficiency. The authors conclude that DECR deficiency with hyperlysinemia is caused by mitochondrial NADP(H) deficiency due to a mutation in NADK2.

Created: 19 Dec 2017, 1:48 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?2,4-dienoyl-CoA reductase deficiency 616034

Publications

• 24847004