PEDIATRICS Vol. 87 No. 3 March 1991, pp. 328-333
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Hypoglycemia, Hypotonia, and Cardiomyopathy: The Evolving Clinical Picture of Long-Chain Acyl-CoA Dehydrogenase Deficiency

William R. Treem MD1, Jeffrey S. Hyams MD1, Charles A. Stanley MD2, Daniel E. Hale MD2, and Harris B. Leopold MD3

1 From the Division of Pediatric Gastroenterology and Nutrition, Hartford Hospital, Hartford, Connecticut, and University of Connecticut School of Medicine, Farmington
2 From the Division of Pediatric Endocrinology, Children's Hospital of Philadelphia, and University of Pennsylvania School of Medicine, Philadelphia
3 From the Division of Pediatric Cardiology, Hartford Hospital, Hartford, Connecticut, and University of Connecticut School of Medicine, Farmington

Inherited defects in fatty acid oxidation, which have been described and diagnosed with increasing frequency in the last decade, are most commonly attributed to a deficiency in the activity of medium-chain acyl-CoA dehydrogenase. Few cases of the related enzyme defect of long-chain acyl-CoA dehydrogenase activity have been reported. An infant with documented long-chain acyl-CoA dehydrogenase deficiency is described with a detailed metabolic profile, long-term clinical follow-up, and response to treatment. This patient is compared with the seven previously published cases of this disorder in order to stress the unique features of the initial presentation, more subtle late manifestations of the disease, and clinical and biochemical differentiation from the more common medium-chain acyl-CoA dehydrogenase deficiency. This report stresses the enlarging spectrum of the clinical presentation and natural history of this defect in fatty acid oxidation.

Key Words: metabolic defect • fatty acid oxidation • cardiomyopathy • hypotonia • carnitine deficiency

Submitted on December 13, 1989
Accepted on March 13, 1990




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