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Fanconi-Bickel syndrome

Synonyms
Fanconi syndrome with intestinal malabsorption and galactose intolerance; Glycogen storage disease due to GLUT2 deficiency; Glycogenosis Fanconi type; HEPATIC GLYCOGENOSIS WITH FANCONI NEPHROPATHY; Hepatic glycogenosis with amino aciduria and glucosuria; Hepatorenal glycogenosis with renal Fanconi syndrome; Pseudo-Phlorizin diabetes
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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 (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 (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by 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. [from OMIM]

Available tests

48 tests are in the database for this condition.

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Clinical tests (48 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GLUT2, SLC2A2
    Summary: solute carrier family 2 member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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