progressive encephalopathy with leukodystrophy due to DECR deficiency
Findings
No curated finding names progressive encephalopathy with leukodystrophy due to DECR deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014464), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Death in childhood · Third trimester onset
HPO, annotations 2026-09-02
Features
57 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Cerebral visual impairmentHPOHP:0100704
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- ChoreoathetosisHPOHP:0001266
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NADK2HGNC:26404
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- DECR1HGNC:2753
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- No Known Disease Relationship · ClinGen · Unknown · 2021
Where it sits
Other names
2 names
Resolves to: progressive encephalopathy with leukodystrophy due to DECR deficiency
- Also called
- 2,4-dienoyl-CoA reductase deficiencyDECR deficiency with hyperlysinemia