Living with Inborn carbohydrate metabolic disorder
A group of inherited conditions in which the body can't break down carbohydrates properly.
Understanding Inborn carbohydrate metabolic disorder
Normally enzymes break carbohydrates down into glucose, a type of sugar. In these disorders, enzymes may be missing or may not work well, so a harmful amount of sugar builds up. Newborns are screened for many of them with blood tests.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
These disorders are inherited. Enzymes that break down carbohydrates are missing or don't work properly.
Also known as: carbohydrate metabolism disorder; disorder of carbohydrate metabolism; disorder of carbohydrate transport and metabolism; inborn carbohydrate metabolic process disorder; inborn carbohydrate metabolism disorder; inborn error of carbohydrate metabolic process
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Inborn carbohydrate metabolic disorder.
Explore research for Inborn carbohydrate metabolic disorder
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- Eligibility is confirmed by the study team
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