2,4-Dienoyl-CoA reductase deficiency

Definition:

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.

References:

[1]. C R Roe, et al. 2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J Clin Invest. 1990 May;85(5):1703-7. [Content Brief]

[2]. Sander M Houten, et al. Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet. 2014 Sep 15;23(18):5009-16. [Content Brief]

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