Autozomálně recesivní
Caused by changes in both copies of the ACAD8 gene, which makes isobutyryl-CoA dehydrogenase, an enzyme in the valine breakdown pathway in mitochondria.
Příznaky a projevy
Most people identified through newborn screening, by a raised C4-carnitine level, remain well. A small number of children have been reported with developmental delays, hypotonia, slow growth, anaemia or seizures, though it is not always clear these are caused by the condition.
Co se diagnózou změní
Many people need no treatment, but long-term follow-up is advised. Genetic counselling is recommended, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
acyl-CoaA dehydrogenase family, member 8, deficiency of; isobutyric aciduria
