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Summary
RENAL GLYCOSURIA
FAMILIAL RENAL GLYCOSURIA, FRG
233100
OMIM = Online Medalian Inheritance of Men
69076
16p11.2, 6p21.3
  • no treatment indicated/recommended
rare autosomal recessive autosomal dominant glucosuria with normal blood glucose levels
symptoms
glucosuria
no clinical signs or symptoms
laboratory finding
Glucose300.001000.00 mg/24hurineno data
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kerr DSZinn ABThe pyruvate dehydrogenase complex and tricarboxylic acid cyclein Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment 2nd edition Berlin, Springer Verlag00109-1191996
Buist NRMDisorders of gluconeogenesisin Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment 2nd edition Berlin, Springer Verlag00101-1061996
Buist NRMDisorders of gluconeogenesisin Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment 2nd edition Berlin, Springer Verlag00101-1061996
Buist NRMDisorders of gluconeogenesisin Fernandes J, Saudubray JM, Tada K (eds): Inborn metabolic diseases, diagnosis and treatment 2nd edition Berlin, Springer Verlag00101-1061996
Gibson KMet al.Stable isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis od D- and L-2-hydroxyglutaric acidemiasPediatr Res340277-2801993