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GTR Home > Conditions/Phenotypes > Progressive encephalopathy with leukodystrophy due to DECR deficiency

Progressive encephalopathy with leukodystrophy due to DECR deficiency

Synonyms
2,4-Dienoyl-CoA reductase deficiency; 2,4-alpha dienoyl-CoA reductase deficiency; Dienoyl-CoA reductase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018). [from OMIM]

Available tests

20 tests are in the database for this condition.

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Clinical tests (20 available)

Biochemical Genetics Tests

Molecular Genetics Tests

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  • Also known as: C5orf33, DECRD, MNADK, NADKD1, NADK2
    Summary: NAD kinase 2, mitochondrial

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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