Carnitine-acylcarnitine translocase deficiency
MONDO:0008918Carnitine-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.
Also known as: CACT deficiency, carnitine-acylcarnitine translocase deficiency, CACTD, CARNITINE-acylcarnitine translocase deficiency, Cact deficiency
3 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Inherited lipid metabolism disorder
(189)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Inherited fatty acid metabolism disorder
(7)
Disorder of fatty acid and ketone body metabolism
(3)
Disease of genetic or genomic mechanism
(2)
Disorder of fatty acid oxidation and ketogenesis
(1)