Orphanet: Progressive encephalopathy with leukodystrophy due to DECR deficiency

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Progressive encephalopathy with leukodystrophy due to DECR deficiency

Disease 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.

ORPHA:431361

Classification level: Disorder

Synonym(s):
- 2,4-dienoyl-CoA reductase deficiency
- DECR deficiency with hyperlysinemia
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal, Infancy
ICD-10: G31.8
OMIM: 616034
UMLS: C1857252
MeSH: -
GARD: 10327
MedDRA: -

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Progressive encephalopathy with leukodystrophy due to DECR deficiency

ORPHA:431361

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017)

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