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  • Title: Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy.
    Author: Hurvitz H, Elpeleg ON, Barash V, Kerem E, Reifen RM, Ruitenbeek W, Mor C, Branski D.
    Journal: Eur J Pediatr; 1989 Oct; 149(1):48-51. PubMed ID: 2606128.
    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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