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Stroke, hemiparesis and deficient mitochondrial β-oxidation

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Abstract

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 octanoyl-carnitine. Subsequently, an urinary organic acid profile suggestive of glutaric aciduria type 11 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 β-oxidadation pathways with lipidic myopathy, reduced palmitate and octanoate oxidation rates in cultured fibroblasts. Glutaric aciduria type 11 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.

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Abbreviations

ETF :

electron transfer flavoprotein

ETF:QO :

electron transfer flavoprotein ubiquinone oxidoreductase

MADD :

multipe acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)

MELAS :

mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

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Authors and Affiliations

  1. North France Center for the Study of Childhood Epilepsy, Service des Maladies Infectieuses et de Neurologic Infantiles, Hôpital B, Centre Hospitalo-Universitaire de Lille, F-59037, Lille Cedex, France

    Louis Vallée, Monique Fontaine, Jean-Pierre Nuyts & Joseph Vamecq

  2. Laboratoire de Biochimie, Hôpital Huriez, Centre Hospitalo-Universitaire de Lille, Place de Verdun, F-59037, Lille Cedex, France

    Monique Fontaine

  3. Laboratoire de Spectrométrie de Masse, Université des Sciences de Lille I, F-59655, Villeneuve d'Ascq, France

    Guy Ricart

  4. Laboratoire de Neuropathologie, Hôpital B, Centre Hospitalo-Universitaire de Lille, F-59037, Lille Cedex, France

    Ivan Krivosic

  5. Service de Biochimie, Hôpital Debrousse, 29, rue Soeur-Bouvier, F-69322, Lyon Cedex 05, France

    Priscille Divry & Christine Vianey-Saban

  6. Laboratoire de Biochimie, Hôpital Calmette, Centre Hospitalo-Universitaire de Lille, F-59037, Lille Cedex, France

    Michel Lhermitte

Authors
  1. Louis Vallée
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  2. Monique Fontaine
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  3. Jean-Pierre Nuyts
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  4. Guy Ricart
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  5. Ivan Krivosic
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  6. Priscille Divry
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  7. Christine Vianey-Saban
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  8. Michel Lhermitte
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  9. Joseph Vamecq
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Vallée, L., Fontaine, M., Nuyts, JP. et al. Stroke, hemiparesis and deficient mitochondrial β-oxidation. Eur J Pediatr 153, 598–603 (1994). https://doi.org/10.1007/BF02190669

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  • DOI: https://doi.org/10.1007/BF02190669

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