carnitine-acylcarnitine translocase deficiency
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.
MONDO:0005045
hypertrophic cardiomyopathy
excluded_subClassOf
MONDO:0005267
heart disorder
excluded_subClassOf
MONDO:0017713
disorder of fatty acid oxidation and ketogenesis
is_a
MONDO:0017716
disorder of carnitine cycle and carnitine transport
is_a
CACT deficiency
exact
CACTD
related
carnitine-acylcarnitine translocase deficiency
exact