GLUCOSE-GALACTOSE MALABSORPTION

Question 1

What is  GLUCOSE-GALACTOSE MALABSORPTION?

Accepted Answer

rare

autosomal recessive

mutation in the intestinal sodium/glucose transporter gene (SLC5A1)

DD may be difficult from microvillus atrophy, congenital dodium malabsorption and other congenital sugar malabsorptions therapy: glucose- and galactose-free diet

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glukose-Galaktose-Malabsorption

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 606824

Question 4

Which enzymes are involved?

Accepted Answer

Sodium/glucose cotransporter 1, SLC5A1

Disease	GLUCOSE-GALACTOSE MALABSORPTION
OMIM	606824 OMIM = Online Mendelian Inheritance of Men
Orphanet	35710
Protein (UniProt)	Sodium/glucose cotransporter 1, SLC5A1
Gene locus	22q12.3
ICD	E74.3
Summary	rare autosomal recessive mutation in the intestinal sodium/glucose transporter gene (SLC5A1) DD may be difficult from microvillus atrophy, congenital dodium malabsorption and other congenital sugar malabsorptions therapy: glucose- and galactose-free diet
Laboratory findings	D-Galactose inc (serum) D-Glucose inc (stool) D-Glucose inc (urine) Sodium inc (serum)
Symptoms	diarrhea nephrocalcinosis dehydration failure to thrive failure to thrive glucosuria H2-excretion test hematuria metabolic acidosis onset, neonatal