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carnitine-acylcarnitine translocase deficiency (CACT deficiency)
Genetics:
- autosomal recessive
- associated with defects in SLC25A20
Pathology:
- deficiency in mitochondrial oxidation of fatty acids
Clinical manifestations:
- fatty hepatomegaly
- cardiomyopathy
- muscle weakness
- episodes of life-threatening coma, which eventually lead to death
Laboratory:
- abnormal liver function tests
Complications:
- usually lethal within a few hours or days after birth
General
inborn error of metabolism
Database Correlations
OMIM 212138
References
OMIM :accession 212138