Details of Disease | DrugMAP

General Information of Disease (ID: DISOCW9E)

Disease Name	Progressive encephalopathy with leukodystrophy due to DECR deficiency
Synonyms	dienoyl-CoA reductase deficiency; 2,4-alpha dienoyl-CoA reductase deficiency; DECRD; 2,4-dienoyl-CoA reductase deficiency; DECR deficiency with hyperlysinemia; progressive encephalopathy with leukodystrophy due to DECR deficiency
Definition	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.
Disease Hierarchy	DISVY1TT: Leukodystrophy DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis DISOCW9E: Progressive encephalopathy with leukodystrophy due to DECR deficiency
Disease Identifiers	MONDO ID MONDO_0014464 MESH ID C565624 UMLS CUI C1857252 OMIM ID 616034 MedGen ID 346552 Orphanet ID 431361 SNOMED CT ID 444944006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DECR1	OTCDIR6X	Limited	Unknown	[1]
NADK2	OT1I8GDE	Strong	Autosomal recessive	[2]
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References

1	Mitochondrial 2,4-dienoyl-CoA reductase deficiency in mice results in severe hypoglycemia with stress intolerance and unimpaired ketogenesis. PLoS Genet. 2009 Jul;5(7):e1000543. doi: 10.1371/journal.pgen.1000543. Epub 2009 Jul 3.
2	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. doi: 10.1093/hmg/ddu218. Epub 2014 May 8.