ISSN:
1432-1076
Schlagwort(e):
Glycogen storage disease
;
Fanconi nephropathy
;
Galactose
;
Mitochondrial myopathy
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
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.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF02024334
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