SUCRASE-ISOMALTASE DEFICIENCY

Question 1

What is  SUCRASE-ISOMALTASE DEFICIENCY?

Accepted Answer

rare (~200 cases)
autosomal recessive
mutation in the SI gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kongenitaler Saccharase-Isomaltase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 222900

Question 4

Which enzymes are involved?

Accepted Answer

Sucrase-isomaltase, intestinal

Disease	SUCRASE-ISOMALTASE DEFICIENCY
Synonym	DISACCARIDE INTOLERANCE I
OMIM	222900 OMIM = Online Mendelian Inheritance of Men
Orphanet	35122
Protein (UniProt)	Sucrase-isomaltase, intestinal
ExPASy	3.2.1.10, 3.2.1.48
Gene locus	3q26.1
ICD	E74.3
Summary	rare (~200 cases) autosomal recessive mutation in the SI gene
Laboratory findings	Calcium inc (serum) Isomaltase dec (duodenal mucosa) Sucrase dec (duodenal mucosa)
Symptoms	dehydration diarrhea failure to thrive H2-excretion test malabsorption metabolic acidosis nephrocalcinosis onset, infancy pain, abdominal