Entry Name 2,4-Dienoyl-CoA reductase deficiency
Supergrp Disorders of mitochondrial fatty-acid oxidation [DS:
H00525 ]
Secondary hyperammonemia [DS:
H01400 ]
Mitochondrial disease [DS:
H01427 ]
Description Dienoyl-CoA reductase (DECR) deficiency with hyperlysinemia is a rare disorder affecting the metabolism of polyunsaturated fatty acids and lysine. Patients are with failure to thrive, developmental delay, lactic acidosis and severe encephalopathy suggestive of a mitochondrial disorder. A causal mutation in NADK2, that encodes the mitochondrial NAD kinase, has been revealed.
Category Inherited metabolic disorder, Mitochondrial disease
Brite Human diseases in ICD-11 classification [BR:br08403 ]br08402 ] BRITE hierarchy Pathway hsa00760 Nicotinate and nicotinamide metabolism
Network Gene Other DBs Reference Authors Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ
Title Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
Journal Reference Authors Roe CR, Millington DS, Norwood DL, Kodo N, Sprecher H, Mohammed BS, Nada M, Schulz H, McVie R
Title 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation.
Journal LinkDB All DBs
