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carnitine-acylcarnitine translocase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.
Uniprot Description A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.
Mondo Term and Equivalent IDs
MONDO:0008918:  carnitine-acylcarnitine translocase deficiency
DOID:0111585: 
GARD:0001123: 
MESH:C562812: 
NCIT:C133086: 
Orphanet:159: 
SCTID:238003000: 
UMLS:C0342791: