Overview
Disorders of carbohydrate metabolism (Orphanet code 79161) is a broad group of rare inherited conditions where the body cannot properly break down, store, or use carbohydrates — the sugars and starches found in food. Normally, your body converts carbohydrates into energy that powers every cell. In these disorders, one or more steps in that process are broken because of a faulty gene, leading to a buildup of harmful substances or a shortage of energy in the body. This group includes many specific conditions, such as glycogen storage diseases (where glycogen, a stored form of sugar, builds up in organs like the liver and muscles), disorders of sugar transport, and problems with how the body handles simple sugars like galactose or fructose. Depending on the specific condition, symptoms can affect the liver, muscles, brain, heart, and kidneys. Common symptoms across this group include low blood sugar (hypoglycemia), muscle weakness, liver enlargement, poor growth, and developmental delays. Some conditions are mild and manageable with diet changes, while others are more serious and require enzyme replacement therapy or other medical treatments. Early diagnosis is very important because many of these conditions can be treated effectively, especially when caught early through newborn screening programs.
Key symptoms:
Low blood sugar (hypoglycemia), especially after fasting or illnessEnlarged liver (hepatomegaly)Muscle weakness or crampingPoor growth or failure to thrive in infantsDevelopmental delays or intellectual disabilityFatigue and low energyEnlarged heart (in some conditions)Kidney problemsAbnormal levels of fats in the bloodYellowing of the skin or eyes (jaundice)Vomiting, especially after eating certain foodsSeizuresExercise intolerance or muscle pain after physical activity
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
10 eventsHarvard School of Public Health (HSPH) — NA
University of Alberta — PHASE1
University Medical Centre Maribor — NA
National University of Malaysia — NA
Ricardo Mora — NA
Universidad Católica San Antonio de Murcia — NA
Begüm Yücesoy Güneysu — NA
Novo Nordisk A/S — PHASE3
Shanghai 6th People's Hospital — NA
Supplement Formulators, Inc. — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Disorder of carbohydrate metabolism.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
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 metabolism.
Community
No community posts yet. Be the first to share your experience with Disorder of carbohydrate metabolism.
Start the conversation →Latest news about Disorder of carbohydrate metabolism
Disease timeline:
New recruiting trial: Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: A Study to Evaluate the Effects of a Butyrate-Polyphenol Formulation on Gut Health and Associated Symptoms
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: A Study to See the Effect of NNC0194-0499 Alone or in Combination With Semaglutide on Blood Sugar Control in People Living With Type 1 Diabetes
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: Data Collection of Patients With Rare Bone Diseases
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: SEMA-CardioDiab HUNGARY: A Research Study to Understand the Effects of Oral Semaglutide on Blood Sugar Levels, Weight, and Cardiovascular Risk in People With Type 2 Diabetes Patients in Hungary
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: Effects of Bisphosphonates on OI-Related Hearing Loss
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: Dietary Strategies for Remission of Type 2 Diabetes
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: Understanding the Health Effect of a Bioactive Peptide From Egg: A Pilot Study
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: Structured Education Program and Glycemic Control in Adolescents With Type 1 Diabetes
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
New recruiting trial: Mucolipidosis Type IV Natural History Study
A new clinical trial is recruiting patients for Disorder of carbohydrate metabolism
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 disorder of carbohydrate metabolism has been diagnosed, and what does that mean for my child's or my health?,What dietary changes are needed, and can we work with a metabolic dietitian?,What are the warning signs of a metabolic crisis, and what should I do if one happens?,Is there an FDA-approved treatment or enzyme replacement therapy available for this specific condition?,Should other family members be tested for this condition?,Are there any clinical trials or new treatments being studied that we should know about?,What long-term monitoring will be needed to check for complications in the liver, heart, muscles, or kidneys?
Common questions about Disorder of carbohydrate metabolism
What is Disorder of carbohydrate metabolism?
Disorders of carbohydrate metabolism (Orphanet code 79161) is a broad group of rare inherited conditions where the body cannot properly break down, store, or use carbohydrates — the sugars and starches found in food. Normally, your body converts carbohydrates into energy that powers every cell. In these disorders, one or more steps in that process are broken because of a faulty gene, leading to a buildup of harmful substances or a shortage of energy in the body. This group includes many specific conditions, such as glycogen storage diseases (where glycogen, a stored form of sugar, builds up i
Are there clinical trials for Disorder of carbohydrate metabolism?
Yes — 2 recruiting clinical trials are currently listed for Disorder of carbohydrate metabolism on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Disorder of carbohydrate metabolism?
25 specialists and care centers treating Disorder of carbohydrate metabolism are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.