Living with Glycogen storage disease due to liver phosphorylase kinase deficiency
A mild inherited condition with an enlarged liver, slower growth, and a mild delay in motor skills in childhood.
Understanding Glycogen storage disease due to liver phosphorylase kinase deficiency
It is marked by an enlarged liver, slower growth, and a mild delay in motor development during childhood. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver (hepatomegaly)
- Slower growth
- Scarring of the liver (hepatic fibrosis)
- Mild delay in motor skills
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 digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- 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 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
Changes in genes cause this condition. GARD lists both autosomal recessive and X-linked inheritance. It does not name the gene.
Also known as: glycogen storage disease type 9a; glycogen storage disease type 9c; glycogen storage disease type ixa; glycogen storage disease type ixc; glycogenosis due to liver phosphorylase kinase deficiency; glycogenosis type 9a
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 Glycogen storage disease due to liver phosphorylase kinase deficiency.
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