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Summary
RENAL GLYCOSURIA (GLYS)
FAMILIAL RENAL GLYCOSURIA, FRG
233100
OMIM = Online Medalian Inheritance of Men
69076
16p11.2
  • no treatment indicated/recommended
rare
autosomal recessive
autosomal dominant
mutation in the SLC5A2 gene
glucosuria with normal blood glucose levels
symptoms
Amino acids, urine
glucosuria
no consistent clinical signs or symptoms
polydipsia (increased drinking)
polyuria
laboratory finding
D-Glucose increasedurine
D-Glucose normalplasma
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