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Peds GI boards - Disaccharidase Deficiency/ CHO malabsorption
Terms in this set (36)
What is most common disaccharidase deficiency?
Isolated Sucrase deficiency
What are symptoms of disaccharidase deficiency?
N/V/ Abd Pain/ diarrhea/ Abdominal Distention/ Flatulence
What are secondary causes of disaccharidase deficiency?
infection, inflammation, drugs, radiation, celiac, malnutrition
What are 4 types of disaccharidase deficiency?
Sucrase - isomaltase;
Trehalase deficiency: Where is trehalose found?
mushrooms, algae and insects
What population of people have trehalose deficiency?
What population have the most sucrase-isomaltase deficiency?
Greenland eskimos (2-10%)
What is seen on enzyme studies of sucrase-isomaltase deficiency?
No sucrase activity; trace to normal isomaltase activity
What can't be digested in sucrase-isomaltase deficiency?
sucrose (in fruits)
amylopectin (starch/ glucose polymers) - in wheat and potatoes, pease, beets, onions
What do you see in sucrose H2 breath test in Sucrase-isomaltase deficiency?
Increase H2 > 20ppm in 2hrs after sucrose ingestion (2g/kg up to 50g)
What probiotic can help sucrase-isomaltase deficiency?
Saccharomyces cerevisiae (provides intact sucrase enzyme)
LPH Lactase Phlorizin hydrolase deficiency is in what percentage of adult population?
What is usual tolerance of lactose in patient with lactose intolerance?
12g (1 cup of milk)
When do sx of lactose intolerance kick in?
3-4 hrs after lactose ingestion
How to diagnosis lactase deficiency?
1. Trial off lactose
2. H2 breath testing with lactose
3. Small bowel bx with lactase activity
What is enzyme deficiency assocated with 2% of chronic childhood diarrhea?
Maltase- glucoamylase deficiency
How to treat maltase-glucoamylase deficiency?
Avoid dietary starches and short glucose polymers
When does sucrose - isomaltase deficiency usually present?
3-6mo when sucrose containing fruits introduced
How long does secondary lactase deficiency last (from gastro)?
What are the 3 monosaccharides?
glucose, galactose, fructose
What does sucrase-isomaltase do?
Maltose and isomaltose --> glucose;
sucrose --> glucose and fructose
What does lactase do?
lactose --> glucose and galactose
What dose glucoamylase do?
glucose polymers --> glucose
What are some causes of CHO malabsorption?
Inflammatory small bowel diseases,
microvillus; tufting enteropathy;
pancreatic exocrine insufficiency;
Excessive ingestion of sorbitol (malabsorbed sugar!)
Ingestion of disaccharidase inhibito (ascorbase/ miglitol)
What is normal stool pH
>5.5 (carb fermentation to short chain fatty acids)
How do you measure stool OSM gap?
stool osmotic gap = measured osmolality - (2x Na of stool + K of stool)
What is an abnormal stool OSM gap?
> 50 mosm/kg is diagnostic of CHO malabsorption
How and when does glucose-galactose malabsorption present?
Severe life-threatening diarrhea and dehydration in neonatal period (day 1-4) ; diarrhea stops when feeds held
Clinical manifestations: life threatening neonatal diarrhea, dehydration, metabolic acidosis, RENAL CALCIFICATIONS
What is mutation and defect of glucose-galactose malabsorption?
Mutation in SGLT gene causes inability to transport glucose and galactose in intestinal and renal tubular epithelial cells, glucose and galactose remain in lumen and there is bad osmotic diarrhea
(transporter of 2 Na with 1 glucose or galactose)
How to treat glucose-galactose malabsorption?
No glucose/ galactose in diet
fructose as CHO source
Older patients tolerate some glucose in diet. High fat, high protein
How to Dx glucose-galactose malabsorption?
H2breath test with glucose ++
pH < 5.3
Stool OSM elevated
normal disacch and intestinal histo
What are two types of fructose malabsoprtion?
Toddler's diarrhea due to ingestion of fruit juices (relative deficiency of GLUT5)
Isolated fructose malabsorption (IFM) rare disorder from GLUT5 gene
What kind of diarrhea is seen in toddler's diarrhea?
fructose --> dose dependent osmotic diarrhea
What is treatment for fructose malabsorption?
Strict fructose free diet - titrated to tolerance in toddler's;
IMF --> lifelong
what does maltase do?
Breaks glucose-glucose at 1.4 bond (maltose) into glucose and glucose
What % of white caucasians are lactose intolerant?
but up to 75% of adults worldwide with decrease in lactase
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