Overview
This Orphanet entry (code 306486) is labeled as OBSOLETE, meaning it is no longer considered a valid or active disease classification. The original concept referred to 'Congenital sucrase-isomaltase deficiency without sucrose intolerance,' which described a situation where a person was born with reduced or absent sucrase-isomaltase enzyme activity but did not show the typical symptoms of sugar (sucrose) intolerance, such as diarrhea, bloating, and abdominal pain after eating table sugar or starchy foods. Sucrase-isomaltase is an enzyme found in the lining of the small intestine that helps break down certain sugars and starches. This classification was retired because the medical community determined it did not represent a distinct clinical condition warranting its own disease entry. Individuals who carry genetic variants in the sucrase-isomaltase gene (SI gene) but do not have symptoms are now generally considered carriers or individuals with subclinical enzyme variation rather than having a separate disease. The active and recognized condition is Congenital Sucrase-Isomaltase Deficiency (CSID), which involves actual symptoms of sugar malabsorption. If you or a family member has been given this diagnosis or a related one, it is recommended to speak with a gastroenterologist or clinical geneticist to clarify the current diagnostic classification and whether any follow-up is needed.
Also known as:
Key symptoms:
Bloating and gas after eating sugary or starchy foodsWatery diarrhea after mealsStomach cramps or painNausea after eatingPoor weight gain or failure to thrive in infantsIrritability in babies after feedingFeeling full or uncomfortable quickly after eatingLoose stools that may be frothy or acidic
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.This diagnosis is listed as obsolete — does my child actually have congenital sucrase-isomaltase deficiency (CSID)?,Should we pursue genetic testing of the SI gene to clarify the diagnosis?,Are there any dietary changes we should make even if there are no current symptoms?,Could symptoms develop later in life, and what should we watch for?,Is enzyme replacement therapy (Sucraid) needed in our case?,Should other family members be tested for SI gene variants?,Can you refer us to a dietitian experienced with carbohydrate malabsorption?
Common questions about OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance
What is OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance?
This Orphanet entry (code 306486) is labeled as OBSOLETE, meaning it is no longer considered a valid or active disease classification. The original concept referred to 'Congenital sucrase-isomaltase deficiency without sucrose intolerance,' which described a situation where a person was born with reduced or absent sucrase-isomaltase enzyme activity but did not show the typical symptoms of sugar (sucrose) intolerance, such as diarrhea, bloating, and abdominal pain after eating table sugar or starchy foods. Sucrase-isomaltase is an enzyme found in the lining of the small intestine that helps brea
How is OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance inherited?
OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance typically begin?
Typical onset of OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance is infantile. Age of onset can vary across affected individuals.