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Definition

An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.

Acronym

CPT2DI

Synonyms

Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular
Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia
CPT2 deficiency, infantile
CPT II deficiency, hepatic