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Carnitine-acylcarnitine translocase deficiency
rareCarnitine-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.
- Identifiers
- MONDO:0008918 OMIM:212138Orphanet:159
- Causal genes
- SLC25A20
- Part of
- Disorder of carnitine cycle and carnitine transportDisorder of fatty acid oxidation and ketogenesis
- Also known as
- CACT deficiency · CACTD
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