Conditions / Genetic
ethylmalonic encephalopathy
info · Genetic
A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compo
A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
Signs and symptoms
- Global developmental delay
- Elevated circulating butyrylcarnitine concentration
- Ethylmalonic aciduria
- Cytochrome C oxidase-negative muscle fibers
- Lactic acidosis
- Hypotonia
- Acrocyanosis
- Developmental regression
- Chronic diarrhea
- Feeding difficulties