Stroke, hemiparesis and deficient mitochondrial β-oxidation
| Autor: | Ivan Krivosic, Jean-Pierre Nuyts, Louis Vallée, Joseph Vamecq, Monique Fontaine, P. Divry, Christine Vianey-Saban, Guy Ricart, Michel Lhermitte |
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| Rok vydání: | 1994 |
| Předmět: |
Fatty Acid Desaturases
Male medicine.medical_specialty Ataxia Urinary system Hemiplegia Glutaric acid MELAS syndrome Glutarates chemistry.chemical_compound Carnitine Internal medicine MELAS Syndrome medicine Humans Decompensation Myopathy business.industry Glutaric aciduria medicine.disease Mitochondria Cerebrovascular Disorders Endocrinology chemistry Child Preschool Pediatrics Perinatology and Child Health medicine.symptom business Oxidation-Reduction medicine.drug |
| Zdroj: | European Journal of Pediatrics. 153:598-603 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/bf02190669 |
| Popis: | We describe on a 3-year-old child referred for evaluation and therapy of a cerebral vascular accident with residual hemiplegia and partial epilepsy. Metabolic investigations initially showed normal urinary organic acids as well as normal blood and urinary amino acids. Blood carnitine fractions had been pathological and a secondary carnitine deficiency was diagnosed and treated by oral L-carnitine supplementation. During carnitine treatment, abnormal urinary acylcarnitine profiles were noticed with excessive amounts of several carnitine esters including propionylcarnitine, butyryl- and/or isobutyryl-carnitine, isovaleryl- and/or 2-methylbutyryl-carnitine, hexanoylcarnitine and octanoylcarnitine. Subsequently, an urinary organic acid profile suggestive of glutaric aciduria type II was recorded during a clinical decompensation crisis. Morphological and biochemical studies on skeletal muscle and skin fibroblasts were performed and confirmed the existence of a defect of the mitochondrial beta-oxidation pathways with lipidic myopathy, reduced palmitate and octanoate oxidation rates in cultured fibroblasts. Glutaric aciduria type II increases the list of metabolic disorders characterized by hemiplegia and other sequelae of brain ischaemia such as stroke-like episode, seizures, aphasia, ataxia and myoclonia, similar to those seen in MELAS. |
| Databáze: | OpenAIRE |
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