Progressive encephalopathy with leukodystrophy due to DECR deficiency

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Synonyms: 2,4-dienoyl-CoA reductase deficiency | DECR deficiency with hyperlysinemia

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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