progressive encephalopathy with leukodystrophy due to DECR deficiency
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.
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
MONDO:0019046
leukodystrophy
is_a
2,4-alpha dienoyl-CoA reductase deficiency
related
2,4-dienoyl-CoA reductase deficiency
exact
DECR deficiency with hyperlysinemia
exact
DECRD
related
dienoyl-CoA reductase deficiency
related
progressive encephalopathy with leukodystrophy due to DECR deficiency
exact