Glycogenosis with glucoaminophosphaturia

Common Name(s)

Glycogenosis with glucoaminophosphaturia

Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose ({13:Manz et al., 1987}). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested ({2:Berry et al., 1995}; {8:Fellers et al., 1967}; {13:Manz et al., 1987}; {18:Odievre, 1966}). Use of the term glycogenosis type XI introduced by {11:Hug (1987)} is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogenosis with glucoaminophosphaturia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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