Article
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
American journal of medical genetics. Part A - 1 Mar 2018
Pomerantz Daniel J, Ferdinandusse Sacha, Cogan Joy, Cooper David N, Reimschisel Tyler, Robertson Amy, Bican Anna, McGregor Tracy, Gauthier Jackie, Millington David S, Andrae Jaime L W, Tschannen Michael R, Helbling Daniel C, Demos Wendy M, Denis Simone, Wanders Ronald J A, Newman John N, Hamid Rizwan, Phillips John A
Abstract excerpt
Mitochondrial NAD kinase deficiency (NADK2D, OMIM #615787) is a rare autosomal recessive disorder of NADPH biosynthesis that can cause hyperlysinemia and dienoyl-CoA reductase deficiency (DECRD, OMIM #616034). NADK2 deficiency has been reported in only three unrelated patients. Two had severe, unremitting disease; one died at 4 months and the other at 5 years of age. The third was a 10 year old female with CNS...
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