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Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy

  • Metabolic Diseases
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Abstract

We present a 4-year-old male suffering from profound muscular weakness, enzymatically undefined glycogen storage disease. Fanconi nephropathy and impaired galactose utilization. Distorted mitochondria, intramitochondrial fat droplets and partial deficiencies of pyruvate dehydrogenase complex, succinate: cytochrome c oxidoreductase, and cytochrome c oxidase have been found in muscle tissue. The causal relationship between mitochondrial myopathy, glycogen storage disease, Fanconi nephropathy and impaired utilization of galactose is discussed.

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Abbreviations

COX:

cytochrome c oxidase

FN:

Fanconi nephropathy

GSD:

glycogen storage disease

MM:

mitochondrial myopathy

NADH:

nicotinamide adenine dinucleotide reduced

PDHC:

pyruvate dehydrogenase complex

SCOX:

succinate: cytochrome c oxidoreductase

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Authors and Affiliations

  1. Department of Paediatrics, Bikur-Cholim Hospital, 5 Strauss Street, Jerusalem, Israel

    H. Hurvitz, O. N. Elpeleg, E. Kerem, R. M. Reifen & D. Branski

  2. Laboratory for Clinical Biochemistry, Hadassah Hospital, Jerusalem, Israel

    V. Barash

  3. Department of Paediatrics, Academic Hospital, Nijmegen, The Netherlands

    W. Ruitenbeek

  4. Clinical Pathology Department, Beilinson Hospital, Petah-Tiqva, Israel

    C. Mor

Authors
  1. H. Hurvitz
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  2. O. N. Elpeleg
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  3. V. Barash
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  4. E. Kerem
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  5. R. M. Reifen
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  6. W. Ruitenbeek
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  7. C. Mor
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  8. D. Branski
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Hurvitz, H., Elpeleg, O.N., Barash, V. et al. Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy. Eur J Pediatr 149, 48–51 (1989). https://doi.org/10.1007/BF02024334

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  • DOI: https://doi.org/10.1007/BF02024334

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