RENAL GLYCOSURIA (GLYS)

Question 1

What is  RENAL GLYCOSURIA (GLYS)?

Accepted Answer

rare
autosomal recessive
autosomal dominant
mutation in the SLC5A2 gene
glucosuria with normal blood glucose levels

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Renale Glukosurie; Familiäre renale Glukosurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 233100

Question 4

Which enzymes are involved?

Accepted Answer

Sodium/glucose cotransporter 2

Disease	RENAL GLYCOSURIA (GLYS)
Synonym	FAMILIAL RENAL GLYCOSURIA, FRG
OMIM	233100 OMIM = Online Mendelian Inheritance of Men
Orphanet	69076
Protein (UniProt)	Sodium/glucose cotransporter 2
Gene locus	16p11.2
ICD	E74.8
Summary	rare autosomal recessive autosomal dominant mutation in the SLC5A2 gene glucosuria with normal blood glucose levels
Laboratory findings	D-Glucose inc (urine)
Symptoms	Amino acids, urine glucosuria polyuria no clinical symptoms (probably) onset, adolescent onset, childhood onset, infancy onset, neonatal polydipsia (increased drinking)