FEEDING: SHORT BOWEL SYNDROME [DD]

Question 1

What is  FEEDING: SHORT BOWEL SYNDROME [DD]?

Accepted Answer

malabsorption disorder caused by a lack of functional small intestine:

- congenital defect (mutation in the CLMP gene)
- intestinal infarction
- extensive surgical resection)

risk factors probably accounted for hyperammonemia after

short bowel resection and/or during PN/TPN:

- short bowel syndrome
- small bowel resection
- excessive intake of branched chain aminoacids
- sufficient quantities of arginine

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Ernährung: Folgen Kurzdarm-Syndrom [DD]

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615237

Question 4

Which enzymes are involved?

Accepted Answer

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Disease	FEEDING: SHORT BOWEL SYNDROME [DD]
OMIM	615237 OMIM = Online Mendelian Inheritance of Men
Orphanet	104008
ExPASy	---
Gene locus	---
ICD	K91.2
Summary	malabsorption disorder caused by a lack of functional small intestine: - congenital defect (mutation in the CLMP gene) - intestinal infarction - extensive surgical resection) risk factors probably accounted for hyperammonemia after short bowel resection and/or during PN/TPN: - short bowel syndrome - small bowel resection - excessive intake of branched chain aminoacids - sufficient quantities of arginine
Laboratory findings	Ammonia normal/inc (blood) Methylmalonic acid normal/inc (urine)
Symptoms	diarrhea failure to thrive intestinal malabsorption short bowel syndrome (congenital, aquired) steatorrhea vomiting encephalopathy hyperammonemia onset, childhood onset, infancy onset, neonatal