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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

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.