Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy
- 1 October 1989
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 149 (1) , 48-51
- https://doi.org/10.1007/bf02024334
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.Keywords
This publication has 27 references indexed in Scilit:
- Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1988
- Tubular function of kidney after galactose loading in two patients with glycogen storage disease type XIJournal of Inherited Metabolic Disease, 1987
- Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunctionBiochemical and Biophysical Research Communications, 1986
- A possible unrecognized disease of galactose metabolismJournal of Inherited Metabolic Disease, 1983
- Galactosaemia: a new severe variant due to uridine diphosphate galactose-4-epimerase deficiency.Archives of Disease in Childhood, 1981
- FAMILIAL FANCONI SYNDROME WITH MALABSORPTION AND GALACTOSE INTOLERANCE, NORMAL KINASE AND TRANSFERASE ACTIVITY.Acta Paediatrica, 1981
- The fanconi syndrome associated with hepatic glycogenosis and abnormal metabolism of galactoseThe Journal of Pediatrics, 1974
- A rapid enzymic method for glycogen estimation in very small tissue samplesClinica Chimica Acta; International Journal of Clinical Chemistry, 1970
- The Determination of Amylo-1,6-GlucosidaseEuropean Journal of Biochemistry, 1967
- Glykogenose der Leber mit Aminoacidurie und GlucosurieKlinische Wochenschrift, 1963