Autoszomális recesszív
Caused by changes in both copies of the ACAD8 gene, which makes isobutyryl-CoA dehydrogenase, an enzyme in the valine breakdown pathway in mitochondria.
Tünetek és jelek
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.
Mit változtat a diagnózis
Many people need no treatment, but long-term follow-up is advised. Genetic counselling is recommended, and carrier testing is available for relatives.
Vizsgált gének
Más néven
acyl-CoaA dehydrogenase family, member 8, deficiency of; isobutyric aciduria
