Disease association ontology term - MONDO:0008760 - beta-ketothiolase deficiency
Term summary
- ID
- MONDO:0008760
- Name
- beta-ketothiolase deficiency
- Ontology or CV name
- Disease association
- Definition
- Beta-ketothiolase (T2) deficiency is a rare 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 or toddlerhood and usually ceasing by adolescence.
