carnitine palmitoyltransferase 1 deficiency

Epidemiology

rare

Pathology

• disorder of long-chain fatty acid oxidation

Genetics

• autosomal recessive
• associated with defects in CPT1A

Clinical manifestations

• onset is in infancy or early childhood
• severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness

Laboratory

• CPT1A gene mutation

More general terms

• carnitine palmitoyltransferase deficiency

Database

• OMIM: https://mirror.omim.org/entry/255120