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

H. Hurvitz*, O. N. Elpeleg, V. Barash, E. Kerem, R. M. Reifen, W. Ruitenbeek, C. Mor, D. Branski

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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.

Original languageAmerican English
Pages (from-to)48-51
Number of pages4
JournalEuropean Journal of Pediatrics
Volume149
Issue number1
DOIs
StatePublished - Oct 1989
Externally publishedYes

Keywords

  • Fanconi nephropathy
  • Galactose
  • Glycogen storage disease
  • Mitochondrial myopathy

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