Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood
| Autor: | Rja Wanders, L. Ijlst, C. Vianey-Liaud, Nathalie Cartier, P F Bougnères, M. Fabre, Francis Rocchiccioli, Patrick Aubourg |
|---|---|
| Přispěvatelé: | Other departments |
| Rok vydání: | 1990 |
| Předmět: |
medicine.medical_specialty
Dehydrogenase Biology chemistry.chemical_compound Muscular Diseases Internal medicine medicine Humans Carnitine Myopathy Beta oxidation chemistry.chemical_classification Fatty acid metabolism Thiolase Muscles Acyl-CoA Dehydrogenase Long-Chain Infant Fatty acid Lipid Metabolism Hypoglycemia Endocrinology Liver chemistry Biochemistry Pediatrics Perinatology and Child Health Female lipids (amino acids peptides and proteins) medicine.symptom Cardiomyopathies Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase medicine.drug |
| Zdroj: | Pediatric research, 28(6), 657-662. Lippincott Williams and Wilkins |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-199012000-00023 |
| Popis: | A child presented in early childhood with episodes of coma and hypoglycemia and a rapidly evolutive myopathy and cardiomyopathy leading to death at 9 mo of age. Ketosis was decreased (blood β-hydroxybutyrate: 0.07 mmol/L) despite normal plasma levels of fatty acids (0.81 mmol/L). The patient's urine contained excessive amounts of the C6 to C10 dicarboxylic acids present in almost all defects of fatty acid mitochondrial oxidation. More specifically, gas chromatography-mass spectrometry identified an accumulation of medium- and long-chain (C8 to C14) 3-hydroxy-dicarboxylic acids, suggesting a defect of the mitochondrial enzyme that normally dehydrogenates these 3-hydroxyacyl-CoA esters. Biochemical studies in the patient's cultured fibroblasts confirmed the impairment of medium- and long-chain fatty acid oxidation, and allowed the recognition of the deficiency of long-chain 3-hydroxyacyl- CoA dehydrogenase. The activities of long-, medium-, and short-chain acyl-CoA dehydrogenases and 3-ketoacyl- CoA thiolase were normal. These results describe a disorder of fatty acid metabolism that affects the liver, skeletal muscles, and myocardium. It is important to point out that long-chain 3-hydroxyacyl-CoA deficiency shares many clinical similarities with systemic carnitine deficiency, as well as with carnitine-palmityl-CoA transferase and longchain acyl-CoA dehydrogenase deficiencies. The differential diagnosis of this disease relies on the demonstration of long-chain urinary dicarboxylic acids with a hydroxyl group in 3-position and the study of the enzyme activity in cultured fibroblasts. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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