Progressive encephalopathy with leukodystrophy due to DECR deficiency

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Progressive encephalopathy with leukodystrophy due to DECR deficiency

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: // Data version September 2023.

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Advocacy Organizations

Aicardi-Goutieres Syndrome Advocacy Association

AGSAA is a global coalition of deeply dedicated parent advocates working alongside clinicians, researchers, and scientists. We are united in our desire to improve the lives of individuals and families living with Aicardi-Goutières Syndrome and those yet to be diagnosed. Everything we do reflects a sense of urgency to rescue patient potential and preserve quality of life through accelerating research and providing timely emotional and educational support alongside evolving clinical care recommendations to affected families.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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