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Research Article
Dicarboxylicaciduria and secondary carnitine deficiency in glycogenosis type IV.
  1. P D Maaswinkel-Mooy,
  2. B J Poorthuis,
  3. H H van Gelderen,
  4. J J van de Kamp
  1. Department of Paediatrics, University Hospital, Leiden, The Netherlands.

    Abstract

    A 3 year old boy developed an unusually mild form of glycogen storage disease type IV. Metabolic investigations showed severe abnormalities of fatty acid and carnitine metabolism. A muscle carnitine deficiency was found. Treatment with L-carnitine orally led to a notable improvement in muscle strength.

    http://dx.doi.org/10.1136/adc.62.10.1066

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