Sucrase

Isomaltase
Deficiency
An underdiagnosed GI condition

By Sarah Dressel
SID Introduction
● Sucrase-Isomaltase Deficiency is a condition that impairs
one's ability to digest sugars due to deficiency of the
enzyme sucrase-isomaltase1
○ Enzyme metabolizes sucrose and starches
○ Creates painful/uncomfortable GI symptoms like
diarrhea, gas, bloating
● Congenital sucrase-isomaltase deficiency (CSID) better
understood in children as it’s often diagnosed in childhood
○ Caused by inherited genetic defect
● Often undiagnosed in adulthood as it’s mistaken for IBS-
D/M since they present similarly
● Could be developed secondarily from other GI conditions
that damage brush border of small intestines where
enzyme resides
 Incidence + Prevalence
● Historically considered rare1
○ Estimated 0.2% prevalence
European/North American
populations
○ Even lower in Hispanic and African
Americans
● Higher in populations near northern pole
in Greenland (5-10%) and Canada,
particularly Inuit communities (3-7%)2
● Now suggested diagnosis greatly
underrecognized, possibly 2-9% of
Americans of European descent could be
affected3
● May affect 10% of people with IBS-D
diagnosis4
Image from sucraid.com
 Etiology ● CSID autosomal condition caused by 2
defective copies or mutations in the
sucrase-isomaltase (SI) gene
○ Initially thought to be
homozygous recessive condition,
but found heterozygous carriers
of SI variants also can be
symptomatic1
○ At least 37 pathogenic SI gene
mutations have been identified
creating many phenotypes with
range of enzymatic activity1
● Secondary/acquired SID caused by
Sucrose in transit through small intestine without being conditions causing small intestine
absorbed by enzymes in the intestinal brush-border. Image
courtesy of CSID AR app. villous atrophy
○ Possibly transient and resolve as
underlying condition treated3
Pathophysiology
● Sucrose passes through small intestine without being
broken down by brush-border enzymes
● Accumulated sucrose passes into colon where it draws
water and is fermented by bacteria3
○ Excessive production of gases: hydrogen, methane,
hydrogen sulfide

→ Creates abdominal distention, cramping, pain,

gas, osmotic diarrhea (loose and watery bowels)3

● Symptom onset post-prandial, after eating sucrose and

possibly starch
 Medical Management
EGD with
Enzyme Replacement Disaccharidase
Therapy Assay
Small bowel biopsy
Sucraid (sacrosidase) active enzyme that
taken to measure
breaks down sucrose5
activity of sucrase,
● Treats but does not cure
lactase, maltase and
● $8,700 per 236 mL
palatinase enzymes.
● No generic alternative
● Typically covered with prior
authorization if proven medically C Sucrose Breath
13

necessary Test
Genetic Testing Low dose of stable isotope
of carbon found in sucrose
SI exome genetic sequencing ingested, 13CO2 exhalation
identifies homozygous and to determine how much was
compound heterozygous digested.
mutations causing CSID.
 Nutrition Management
Review of Literature

● CSID added to Nutrition Care Manual in 20207

● Limited research on CSID, particularly diagnosing in adulthood, but becoming
increasingly recognized and distinguished from IBS
○ Encouraged in the differential diagnosis of pts presenting with ab pain,
gas, diarrhea and bloating6
● Historically main treatment option was lifelong sucrose and starch restricted
diets - but extremely difficult to adhere to1
○ Difficult for pts as food labels don’t identify sucrose or starch
○ Excessive restriction d/t painful symptoms or sucrose restriction may also
contribute to malnutrition or micronutrient deficiencies7
● Now recognized diet recommendations should be highly individualized based
on pt tolerance, preference, and oral enzyme replacement use 7
○ Even using sacrosidase, maltose and starch digestion will not be
enhanced
■ Focus on portions or dietary strategies to enhance starch digestion
may be warranted
 Nutrition Management
Medical Nutrition Therapy
Anthropometrics
More likely to present with low weight
or weight loss, but not always and can
also be overweight. Can present in
adults or children.
Biochemical
Diagnostic test (Disaccharidase
assays, genetic test, 13C breath
test), lipid profile, vitamin/mineral
assessment, c-reactive protein7
Clinical
Chronic/frequent diarrhea, gas, bloating,
distention, pain after meals. Distinguishing SID
features from IBS:4
● SID gets worse on low FODMAP diet
● may wake pt overnight
● doesn’t respond to anti diarrheals
● Stools light colored, burn, or feel “acidic”
● Symptom onset 2-8 hrs after eating
sucrose containing meal (severity dose
dependent)
● Symptoms present since early childhood
(for CSID)
Treat with sacrosidase and tailored low-sucrose
and/or low starch diet based on tolerance.
 Dietary Management
Temporary low-sucrose diet to
manage symptoms before enzyme
supplementation or when enzyme not
available4
● Refrigeration makes it hard to
travel, may adapt diet if sucraid
not convenient
● NOT only therapy: nutritionally
limited, QOL burden
Elimination diet to assess CHO
tolerance
Other low enzyme levels identified in
disaccharidase assay may guide
restriction4 Plate image from sucraid.com
 Dietary Management
Use food composition database on Can search fruits, veg, grains, desserts. etc.
csidcares.com to help identify foods
high in sucrose and starch8
● Not just table sugar! Wide
variety of foods

Liberalize sucrose consumption after

sacrosidase

Starch restriction may be needed, but

not necessarily as amylase enzyme
breaks down starch4
● Fully restricting never required
● To promote starch digestion,
chew more, high fiber foods, High Low
consume alongside fat, portion Apples, bananas, dates, mangos, Berries, grapes, avocado, pears,
control beets, carrots, chickpeas, sweet prunes, coconut, figs, broccoli,
● Goal increase amylase exposure potato, onion, garlic, kidney beans, cucumber, eggplant, mushroom,
yogurt, maple syrup tomato, peppers, agave
time and slow digestion
 Patient Support and
Education
● No apps for supporting patient management, but
CSID AR shows closeup augmented reality of
functioning small intestines vs. CSID.
○ Developed by QOL Medical LLC, makers of
Sucraid
● CSIDCares.org
○ Main resource for info about CSID, treatment,
living with CSID, food database
● Dietary guides for pts treated with sucraid (see
plate on previous slides) Sucraid.com
● Kate Scarlata, RDN, LDN social media
● Professional organization: New York
Gastroenterology Associates
https://gastroenterologistnewyork.com/conditions/
sucrose-intolerance/
 SUMMARY & RECOMMENDATIONS

0 0 0
1 2 3
CSID often mimics Rare but underdiagnosed, Disaccharidase assay
IBS-D. Watch for its more common than gold standard
distinguishing features. previously believed. Often diagnostic test. But
European ancestry. expensive/invasive.
0 0 0
4 5 6
Understanding high SID has varying severity, Only low-sucrose diet
sucrose/starch foods and exact dietary approach approach can lead to
triggering portions important will be iterative, varied; nutrient deficiencies
even if on enzyme work with an RDN. and low QOL.
replacement therapy.
 REFERENCES
1. Chey, W. D., Cash, B., Lembo, A., Patel, D. B., &
Scarlata, K. (2020). Congenital Sucrase-Isomaltase 6. Kim, S. B., Calmet, F. H., Garrido, J., Garcia-Buitrago,
Deficiency: What, When, and How? Gastroenterology & M. T., & Moshiree, B. (2020). Sucrase-Isomaltase
Hepatology, 16(10). Deficiency as a Potential Masquerader in Irritable Bowel
2. Uhrich, Stefanie; Wu, Zaining; Huang, Jie-Yu; Scott, C. Syndrome. Digestive diseases and sciences, 65(2), 534–
Ronald. Four Mutations in the SI Gene Are Responsible 540.
7. Academy of Nutrition and Dietetics. (2020). Overview of
for the Majority of Clinical Symptoms of CSID. Journal
Congenital Sucrase-Isomaltase Deficiency (CSID) (2020).
of Pediatric Gastroenterology and Nutrition: November Nutrition Care Manual. Retrieved November 29, 2022, from
2012 - Volume 55 - Issue - p S34-S35 doi: https://www.nutritioncaremanual.org/topic.cfm?
10.1097/01.mpg.0000421408.65257.b5 ncm_category_id=1&lv1=274822&lv2=274823&ncm_toc_i
3. Cohen S. A. (2016). The clinical consequences of d=274823&ncm_heading=Nutrition+Care
sucrase-isomaltase deficiency. Molecular and cellular 8. QOL Medical LLC. (2020, October 12). Food
pediatrics, 3(1), 5. composition database. CSID Cares. Retrieved November
29, 2022, from https://www.csidcares.org/treatment/food-
https://doi.org/10.1186/s40348-015-0028-0
composition-database/
4. Pashinsky, Y., Freuman, T. D., & Finkel, S. (2022). Food
& Nutrition Conference & Expo. In IBS Mimickers: The
RD's Role in Detection and Management. Orlando, FL.
5. QOL Medical. (2022, September 1). Sucraid®
(sacrosidase) oral solution - patient information.
Sucraid. Retrieved November 28, 2022, from
https://www.sucraid.com/
THANK
YOU!
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