Overview
Disorder of carbohydrate absorption and transport is a group of rare inherited conditions in which the body has trouble absorbing or moving sugars and carbohydrates from the intestines into the bloodstream, or from the blood into the cells that need them. Carbohydrates are a major source of energy, and when they cannot be properly absorbed or transported, it can lead to a wide range of digestive and nutritional problems. This group includes several specific conditions such as glucose-galactose malabsorption, congenital sucrase-isomaltase deficiency, congenital lactase deficiency, and disorders of glucose transporters (like GLUT1 deficiency syndrome). Symptoms typically begin in infancy or early childhood and may include severe watery diarrhea, bloating, gas, abdominal cramps, poor weight gain, and failure to thrive. In some forms, the brain may also be affected if glucose cannot be properly transported across the blood-brain barrier, leading to seizures and developmental delays. Treatment depends on the specific type of disorder but generally involves strict dietary modifications, such as removing the offending sugar from the diet. For example, in glucose-galactose malabsorption, a fructose-based formula replaces standard infant formula. In GLUT1 deficiency, a ketogenic diet can provide the brain with an alternative energy source. Early diagnosis and dietary management are essential to prevent serious complications like dehydration, malnutrition, and developmental problems. With proper treatment, many patients can lead relatively normal lives.
Key symptoms:
Severe watery diarrheaBloating and gasAbdominal pain and crampingPoor weight gain or failure to thriveDehydrationNausea and vomitingIrritability in infantsMalnutritionAcidic or explosive stoolsSeizures (in glucose transporter defects)Developmental delays (in some forms)Low blood sugar episodesMuscle weakness or movement problems (in GLUT1 deficiency)Growth delays
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
1 eventNottingham University Hospitals NHS Trust
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of carbohydrate absorption and transport.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Disorder of carbohydrate absorption and transport.
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 Disorder of carbohydrate absorption and transport.
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.What specific type of carbohydrate absorption or transport disorder does my child have?,Which foods and ingredients do we need to strictly avoid?,Are there any enzyme replacement therapies or medications available for our specific condition?,How will we monitor growth, nutrition, and development over time?,Should other family members be tested for this condition?,What should we do if my child becomes severely dehydrated?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Disorder of carbohydrate absorption and transport
What is Disorder of carbohydrate absorption and transport?
Disorder of carbohydrate absorption and transport is a group of rare inherited conditions in which the body has trouble absorbing or moving sugars and carbohydrates from the intestines into the bloodstream, or from the blood into the cells that need them. Carbohydrates are a major source of energy, and when they cannot be properly absorbed or transported, it can lead to a wide range of digestive and nutritional problems. This group includes several specific conditions such as glucose-galactose malabsorption, congenital sucrase-isomaltase deficiency, congenital lactase deficiency, and disorder
Are there clinical trials for Disorder of carbohydrate absorption and transport?
Yes — 1 recruiting clinical trial is currently listed for Disorder of carbohydrate absorption and transport on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.