Living with Glucose-6-phosphate transport defect
Also called glycogen storage disease type Ib: an inherited condition in which the body can't break down glycogen, affecting the liver and kidneys and the blood's infection-fighting cells.
Understanding Glucose-6-phosphate transport defect
Glycogen and fats build up in the liver and kidneys, which can become enlarged and not work well. Signs usually start around age 3 to 4 months. People may also have low white blood cell counts (neutropenia) that lead to frequent infections, inflammatory bowel disease, and oral health problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low blood sugar (hypoglycemia) and seizures
- Enlarged liver and kidneys
- Frequent bacterial infections
- Slow growth and short stature
- Round face and protruding belly
- Bone thinning (osteoporosis)
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 allergy and immune system specialists, digestive system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in SLC37A4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Association for Glycogen Storage Disease and other patient organizations
- 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
Changes in the SLC37A4 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: g6p deficiency type ib; g6pt deficiency; glucose 6-phosphate transport defect; glycogen storage disease due to g6p deficiency type ib; glycogen storage disease ib; glycogen storage disease ic
Patient organizations
- Association for Glycogen Storage DiseaseGlucose-6-phosphate transport defect · United States
- The Children's Fund for Glycogen Storage Disease ResearchGlucose-6-phosphate transport defect · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Glucose-6-phosphate transport defect.
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