Living with Glycogen storage disease IXb
The mildest form of glycogen storage disease due to PhK deficiency, with an enlarged liver and slower growth in childhood.
Understanding Glycogen storage disease IXb
It is usually noticed in childhood. Common features are an enlarged liver and slower growth in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver (hepatomegaly)
- Slower growth in childhood
- Scarring of the liver (hepatic fibrosis)
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 brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PHKB are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); 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 Association for Glycogen Storage Disease
- 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 PHKB gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: glycogen storage disease 9b; glycogen storage disease caused by mutation in phkb; glycogen storage disease due to liver and muscle glycogen phosphorylase kinase deficiency; glycogen storage disease due to liver and muscle phosphorylase kinase deficiency; glycogen storage disease type 9b; glycogen storage disease type ixb
Patient organizations
- Association for Glycogen Storage DiseaseGlycogen storage disease IXb · United States
You are more than your diagnosis
Perspectives from people navigating life with Glycogen storage disease IXb.
Explore research for Glycogen storage disease IXb
Explore actively recruiting Glycogen storage disease IXb studies with HealthSpark.
Find actively recruiting studies for Glycogen storage disease IXb with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Glycogen storage disease IXb studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Glycogen storage disease IXb
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Glycogen storage disease IXb experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.