Succinyl-CoA:3-oxoacid CoA transferase deficiency
ORPHA:832· ICD-10 E71.3
Definition
A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal