OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance

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ORPHA:306462
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Overview

Congenital sucrase-isomaltase deficiency (CSID) without starch intolerance is a specific subtype of sucrase-isomaltase deficiency, an inherited digestive disorder. This condition has been classified as 'OBSOLETE' in the Orphanet database, meaning it has been retired as a separate entity and is now generally grouped under the broader category of congenital sucrase-isomaltase deficiency (CSID). In this condition, the body lacks sufficient amounts of the enzyme sucrase-isomaltase, which is needed to break down certain sugars in the small intestine — specifically sucrose (table sugar) and isomaltose (a sugar found in starchy foods). In this particular subtype, patients can tolerate starch but have difficulty digesting sucrose and isomaltose. When affected individuals eat foods containing these sugars, the undigested sugars pass into the large intestine where bacteria ferment them, causing symptoms such as bloating, gas, abdominal cramps, and watery diarrhea. Symptoms typically begin in infancy when sucrose-containing foods are first introduced into the diet. The condition is lifelong but manageable through dietary changes and, in some cases, enzyme replacement therapy. With proper management, most people with this condition can lead healthy, normal lives.

Also known as:

Key symptoms:

Watery diarrhea after eating sugar or sweet foodsBloating and gasAbdominal cramps and painNauseaVomiting in some casesPoor weight gain in infants and childrenFailure to thrive in young childrenIrritability in infants after feedingDiaper rash from acidic stoolsRumbling stomach sounds

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance.

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No actively recruiting trials found for OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance at this time.

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No specialists are currently listed for OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance.

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Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is enzyme replacement therapy (Sucraid) appropriate for my child, and how do I use it?,What specific foods should we avoid, and what are safe alternatives?,Should we see a dietitian to help plan meals?,How can we make sure my child is getting enough nutrition and growing properly?,Will my child's tolerance for sugar improve as they get older?,Should other family members be tested for this condition?,What should I do if my child accidentally eats something with sucrose and has severe symptoms?

Common questions about OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance

What is OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance?

Congenital sucrase-isomaltase deficiency (CSID) without starch intolerance is a specific subtype of sucrase-isomaltase deficiency, an inherited digestive disorder. This condition has been classified as 'OBSOLETE' in the Orphanet database, meaning it has been retired as a separate entity and is now generally grouped under the broader category of congenital sucrase-isomaltase deficiency (CSID). In this condition, the body lacks sufficient amounts of the enzyme sucrase-isomaltase, which is needed to break down certain sugars in the small intestine — specifically sucrose (table sugar) and isomalto

How is OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance inherited?

OBSOLETE: Congenital sucrase-isomaltase deficiency without starch 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 starch intolerance typically begin?

Typical onset of OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance is infantile. Age of onset can vary across affected individuals.