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progressive encephalopathy with leukodystrophy due to DECR deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progressive encephalopathy with leukodystrophy due to DECR deficiency

MONDO:0014464

Also known as:2,4-dienoyl-CoA reductase deficiencyDECR deficiency with hyperlysinemia2,4-alpha dienoyl-CoA reductase deficiency

Overview

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.

GeneticsAutosomal recessive · NADK2 (chr 5)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Encephalopathy, Poor head control, Clonus, and Delayed CNS myelination and others. 43 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Encephalopathy, Clonus, Dystonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

NADK2 encodes NAD kinase 2, mitochondrial (442 aa). Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Highest expression in Liver (74.6 TPM) and Artery Tibial (32.3 TPM).

Progressive encephalopathy with leukodystrophy due to DECR deficiency has been associated with mutations in the NADK2 gene on chromosome 5.

NADK2 is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for NADK2 is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 41 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616034

Orphanet

European rare disease database

Orphanet:431361

GARD

Genetic and Rare Diseases Info Center

GARD:10327

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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progressive encephalopathy with leukodystrophy due to DECR deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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