carnitine-acylcarnitine translocase deficiency (CACT deficiency)

Pathology

• deficiency in mitochondrial oxidation of fatty acids

Genetics

• autosomal recessive
• associated with defects in SLC25A20

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

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/212138