Glucose-galactose malabsorption

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:35710OMIM:606824E74.3
Who is this for?
Show terms as
7Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Glucose-galactose malabsorption (GGM) is a rare inherited condition where the small intestine cannot properly absorb two simple sugars — glucose and galactose — from food. This happens because a protein called SGLT1, which normally acts like a doorway to carry these sugars from the gut into the bloodstream, does not work correctly. When glucose and galactose cannot be absorbed, they stay in the intestine and draw water in, causing severe, watery diarrhea. This condition is also sometimes called congenital glucose-galactose malabsorption or monosaccharide malabsorption. Symptoms begin within the first days of life, as soon as a newborn starts feeding on breast milk or standard formula — both of which contain lactose, a sugar that breaks down into glucose and galactose. The diarrhea is so severe and watery that it can quickly lead to dangerous dehydration, weight loss, and a build-up of acid in the blood (acidosis). Without prompt treatment, this condition can be life-threatening in newborns. The good news is that this condition can be managed effectively with a strict diet. By removing all sources of glucose and galactose from the diet and replacing them with fructose-based formula and foods, symptoms can be completely controlled. Most children who are diagnosed early and follow the diet carefully can grow and develop normally. Over time, some people with GGM develop a limited ability to tolerate small amounts of glucose and galactose, especially as they get older.

Also known as:

Key symptoms:

Severe, watery diarrhea starting in the first days of lifeDangerous dehydrationPoor weight gain or weight loss in newbornsBloating and a swollen bellyAcidic or frothy stoolsHigh acid levels in the blood (metabolic acidosis)Irritability and excessive crying in infantsLow blood sugar in some casesKidney stones (in some older patients)Increased thirst and urination in some cases

Clinical phenotype terms (15)— hover any for plain English
Osmotic diarrheaHP:0033310HypernatremiaHP:0003228Hyperactive bowel soundsHP:0030143
Inheritance

Autosomal recessive

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

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
Feb 2026Maple Syrup Carbohydrate Dose-Response on 20-km Cycling Time-Trial Performance

Université de Montréal — NA

TrialNOT YET RECRUITING
Oct 2023Impact of Two Dietary Interventions on Simple Carbohydrate Intolerance

Oregon Health and Science University — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Glucose-galactose malabsorption.

View clinical trials →

No actively recruiting trials found for Glucose-galactose malabsorption at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Glucose-galactose malabsorption community →

Specialists

7 foundView all specialists →
AM
Anna Hunter, MD
Specialist
PI on 1 active trial
RP
Richard B Kreider, PhD
BOTHELL, WA
Specialist
PI on 2 active trials
BM
Belén Pérez Pevida, MD
Specialist
PI on 1 active trial
SM
Susie Yoon, MD
Specialist
PI on 1 active trial
SM
Sonia Caprio, MD
NEW HAVEN, CT
Specialist
PI on 2 active trials

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 Glucose-galactose malabsorption.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Glucose-galactose malabsorptionForum →

No community posts yet. Be the first to share your experience with Glucose-galactose malabsorption.

Start the conversation →

Latest news about Glucose-galactose malabsorption

Disease timeline:

New recruiting trial: Impact of Two Dietary Interventions on Simple Carbohydrate Intolerance

A new clinical trial is recruiting patients for Glucose-galactose malabsorption

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.Which specific foods and ingredients must we completely avoid, and are there any hidden sources of glucose or galactose we might not think of?,How do we ensure our child gets all the nutrients they need on a fructose-based diet, and should we use any supplements?,Will my child's ability to tolerate glucose or galactose improve as they get older, and how will we know if it does?,What are the warning signs that my child has accidentally eaten something they shouldn't, and when should we go to the emergency room?,Should we test other family members, including siblings, for this condition?,What long-term complications should we watch for, such as kidney stones, and how often should we have check-ups?,Are there any clinical trials or new treatments being studied that our family should know about?

Common questions about Glucose-galactose malabsorption

What is Glucose-galactose malabsorption?

Glucose-galactose malabsorption (GGM) is a rare inherited condition where the small intestine cannot properly absorb two simple sugars — glucose and galactose — from food. This happens because a protein called SGLT1, which normally acts like a doorway to carry these sugars from the gut into the bloodstream, does not work correctly. When glucose and galactose cannot be absorbed, they stay in the intestine and draw water in, causing severe, watery diarrhea. This condition is also sometimes called congenital glucose-galactose malabsorption or monosaccharide malabsorption. Symptoms begin within t

How is Glucose-galactose malabsorption inherited?

Glucose-galactose malabsorption follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Glucose-galactose malabsorption typically begin?

Typical onset of Glucose-galactose malabsorption is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Glucose-galactose malabsorption?

7 specialists and care centers treating Glucose-galactose malabsorption are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.