Дефіцит коротколанцюгової ацил-КоА-дегідрогенази
ORPHA:26792· ICD-10 E71.3· Short chain acyl-CoA dehydrogenase deficiency
Визначення(English summary)
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations ranging from asymptomatic individuals (in most cases) to those with failure to thrive, hypotonia, seizures, developmental delay and progressive myopathy.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy, Neonatal