Beta-ketothiolase deficiency
ORPHA:134· ICD-10 E71.1
Definition
A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal