has material basis in germline mutation in NADK2 progressive encephalopathy with leukodystrophy due to DECR deficiency https://www.malacards.org/card/24_dienoyl_coa_reductase_deficiency MONDO:0014464 GARD:0010327 UMLS:C1857252 DECR deficiency with hyperlysinemia DECRD 2,4-alpha dienoyl-CoA reductase deficiency OMIM:616034 2,4-dienoyl-CoA reductase deficiency dienoyl-CoA reductase deficiency Orphanet:431361 MESH:C565624 Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop. MEDGEN:346552 progressive encephalopathy with leukodystrophy due to DECR deficiency disorder of phospholipids, sphingolipids and fatty acids biosynthesis leukodystrophy