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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 several foci of hyperechogenicity within the right basal ganglia. Free carnitine was markedly decreased in the urine...

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Identifiers

PMID: 9924637
DOI: 10.1177/000992289903800102

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Source receipt: pubmed, retrieved 7 Sept 2026.

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