Living with Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
An inherited condition in which the body can't break down glucose well, causing anemia, muscle problems, or brain symptoms.
Understanding Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
There are two main forms. The hemolytic form is the most common, with early breakdown of red blood cells (chronic hemolytic anemia). Some also have brain symptoms such as intellectual disability, seizures, and stroke. The myopathic form mainly affects muscles, causing progressive weakness, pain, and cramping, especially with exercise. Other combinations have also been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hemolytic anemia (red blood cells break down early)
- Muscle pain and tiredness with exercise
- Muscle breakdown with exercise (rhabdomyolysis)
- Developmental delay and intellectual disability
- Balance problems (ataxia)
- Migraine
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 blood and bone marrow specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PGK1 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
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- 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 Muscular Dystrophy Association
- 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 PGK1 gene cause this condition. It is inherited in an X-linked way, meaning the gene is on the X chromosome.
Also known as: glycogen storage disease caused by mutation in pgk1; glycogenosis due to phosphoglycerate kinase 1 deficiency; gsd due to phosphoglycerate kinase 1 deficiency; pgk1 deficiency; pgk1 glycogen storage disease; phosphoglycerate kinase 1 deficiency with levo-dopa-responsive parkinsonism
Patient organizations
- Muscular Dystrophy AssociationGlycogen storage disease due to phosphoglycerate kinase 1 deficiency · United States
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