Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features.

doi:10.1177/000992289903800102

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Article

Fatal carnitine palmitoyltransferase II deficiency in a newborn: new phenotypic features.

Clinical pediatrics - 1 Jan 1999

Pierce M R, Pridjian G, Morrison S, Pickoff A S

Abstract excerpt

We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly with biventricular hypertrophy, and ventricular arrhythmias. Cranial ultrasound revealed cystic dysplasia with...

Topics

Abnormalities, Multiple
Carnitine O-Palmitoyltransferase
Deficiency Diseases
Fatal Outcome
Humans
Infant, Newborn
Male
Phenotype

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