Literature DB >> 2606128

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

H Hurvitz1, O N Elpeleg, V Barash, E Kerem, R M Reifen, W Ruitenbeek, C Mor, D Branski.   

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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Year:  1989        PMID： 2606128     DOI： 10.1007/bf02024334

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  24 in total

1.  Studies on the mechanism of the inhibition of galactose oxidation by ethanol.

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Journal:  J Biol Chem       Date:  1961-09       Impact factor: 5.157

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Journal:  Clin Chim Acta       Date:  1970-12       Impact factor: 3.786

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Journal:  Z Kinderheilkd       Date:  1967

5.  The determination of amylo-1,6-glucosidase.

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Journal:  Eur J Biochem       Date:  1967-10

6.  Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunction.

Authors:  M Tanaka; M Nishikimi; H Suzuki; T Ozawa; E Okino; H Takahashi
Journal:  Biochem Biophys Res Commun       Date:  1986-06-13       Impact factor: 3.575

7.  Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity.

Authors:  W Sperl; W Ruitenbeek; J M Trijbels; R C Sengers; A M Stadhouders; J P Guggenbichler
Journal:  Eur J Pediatr       Date:  1988-05       Impact factor: 3.183

8.  Effect of glutamine on fructose 2,6-bisphosphate and on glucose metabolism in HeLa cells and in chick-embryo fibroblasts.

Authors:  M Mojena; L Bosca; L Hue
Journal:  Biochem J       Date:  1985-12-01       Impact factor: 3.857

9.  Metabolic abnormalities in the idiopathic Fanconi syndrome: studies of carbohydrate metabolism in two patients.

Authors:  R W Chesney; B S Kaplan; D Teitel; E Colle; R R McInnes; H Goldman; C R Scriver
Journal:  Pediatrics       Date:  1981-01       Impact factor: 7.124

10.  A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

Authors:  J C Fischer; W Ruitenbeek; F J Gabreëls; A J Janssen; W O Renier; R C Sengers; A M Stadhouders; H J ter Laak; J M Trijbels; J H Veerkamp
Journal:  Eur J Pediatr       Date:  1986-02       Impact factor: 3.183
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  6 in total

1.  A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.

Authors:  M H Odièvre; A Lombès; P Dessemme; R Santer; M Brivet; B Chevallier; B Lagardère; M Odièvre
Journal:  J Inherit Metab Dis       Date:  2002-09       Impact factor: 4.982

2.  Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.

Authors:  P J Lee; W G Van't Hoff; J V Leonard
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 3.  Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.

Authors:  Y T Chen
Journal:  Pediatr Nephrol       Date:  1991-01       Impact factor: 3.714

4.  Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies.

Authors:  W Sperl; W Ruitenbeek; R C Sengers; J M Trijbels; H Bentlage; J E Wraith; C Heilmann; S Stöckler; C Binder; G C Korenke
Journal:  Eur J Pediatr       Date:  1992-03       Impact factor: 3.183

Review 5.  Renal involvement in mitochondrial cytopathies.

Authors:  P Niaudet; A Rötig
Journal:  Pediatr Nephrol       Date:  1996-06       Impact factor: 3.714

6.  Diabetes-like renal glomerular disease in Fanconi-Bickel syndrome.

Authors:  G T Berry; L Baker; F S Kaplan; C L Witzleben
Journal:  Pediatr Nephrol       Date:  1995-06       Impact factor: 3.714
  6 in total

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