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Deficiency of Carnitine Palmitoyltransferase I

Clinique de Genetique Medicale, Hôpital des Enfants Malades, Paris, France

Richard Haas, MD

Department of Neurosciences, University of California San Diego, Department of Pediatrics, University of California San Diego

Jon Wolff, MD

Department of Pediatrics, University of California San Diego, Institute for Molecular Genetics University of California San Diego, La Jolla, CA

L.P. Thuy, PhD

Department of Pediatrics, University of California San Diego

Richard Buchta, MD

the Scripps Clinic and Research Foundation, La Jolla, California

J.E. Carroll, MD

Department of Neurology, Medical College of Georgia, Augusta, GA

Jean-Marie Saudubray, MD

Clinique de Genetique Medicale, Hôpital des Enfants Malades, Paris, France

F. Demaugre, PhD

Clinique de Genetique Medicale, Hôpital des Enfants Malades, Paris, France

William L. Nyhan, MD, PhD

Department of Pediatrics, University of California San Diego, Institute for Molecular Genetics University of California San Diego, La Jolla, CA

Defective activity of carnitine palmitoyltransferase I was demonstrated in fibroblasts derived from a patient with hypoketotic hypoglycemia. The level of activity observed was approximately 10% of the control mean. Oxidation of palmitate by intact fibroblasts was reduced to 5% of control values. The patient presented at age 14 months with seizures and was found to have marked hypoglycemia and no ketones in the urine. In response to fasting, she developed hypoglycemia, but the curves for acetoacetate and 3-hydroxybutyrate were flat. Administration of medium-chain triglycerides relieved the hypoglycemia and generated a brisk ketogenesis. (J Child Neurol 1989;4:197-202).

Journal of Child Neurology, Vol. 4, No. 3, 198-203 (1989)
DOI: 10.1177/088307388900400310


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