Living with Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
A condition that changes how muscle cells break down sugar for energy, but usually causes no symptoms.
Understanding Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
People with this condition typically have no signs or symptoms, and it is unclear why it causes no health problems. It is usually found when routine blood tests show reduced activity of the enzyme lactate dehydrogenase. It is usually noticed in adulthood.
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.
- 3Consider genetic testing
Changes in LDHB 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
- 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 LDHB gene cause this condition. GARD's summary describes autosomal recessive inheritance, meaning a child inherits a changed copy from each parent.
Also known as: glycogenosis due to lactate dehydrogenase h-subunit deficiency; gsd due to lactate dehydrogenase h-subunit deficiency; lactate dehydrogenase b deficiency; lactate dehydrogenase-b deficiency; ldh-h subunit deficiency
Patient organizations
- Muscular Dystrophy AssociationGlycogen storage disease due to lactate dehydrogenase H-subunit deficiency · United States
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