carnitine acetyltransferase deficiency
MONDO:0011642Mondo
Findings
No curated finding names carnitine acetyltransferase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A disease arising from a defect of carnitine acetyltransferase causing disruption of whole-body glucose homeostasis and muscle-specific loss of function results in reduced metabolic control, which resembles the insulin resistant state.
Definition from the Mondo Disease Ontology (MONDO:0011642), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of