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carnitine acetyltransferase deficiency

Disease Summary
Associated Targets ()

Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0011642:  carnitine acetyltransferase deficiency
GARD:0008602: 
MESH:C563249: 
SCTID:124257002: 
UMLS:C1443228: 
UMLS:CN035113: