J Inherit Metab Dis 2021 Jul 29;44(4):903-915. Epub 2021 Mar 29.
Department of Metabolic Genetics, Sydney Children's Hospitals' Network NSW, Sydney, New South Wales, Australia.
Carnitine acyl-carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long-chain fatty-acid transport. Most patients present in the first 2 days of life, with hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy or arrhythmia, hepatomegaly and elevated liver enzymes. Multi-centre international retrospective chart review of clinical presentation, biochemistry, treatment modalities including diet, subsequent complications, and mode of death of all patients. Read More