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.
Comprehensive, easy-to-understand information about this condition
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very long chain acyl-CoA dehydrogenase deficiency
MONDO:0008723
systemic primary carnitine deficiency disease
MONDO:0008919
3-hydroxy-3-methylglutaric aciduria
MONDO:0009520
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
MONDO:0011614
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
MONDO:0012173
acyl-CoA dehydrogenase 9 deficiency
MONDO:0012624