Living with Glycogen storage disease due to lactate dehydrogenase deficiency
A rare condition affecting how muscles make energy, causing tiredness and muscle pain with exercise.
Understanding Glycogen storage disease due to lactate dehydrogenase deficiency
With M-subunit deficiency, the main features are tiredness and muscle pain with exercise, sometimes with rust-colored urine (myoglobinuria). Some people develop skin lesions similar to pustular psoriasis. Pregnancy complications have also been described. H-subunit deficiency shows up as low LDH activity in blood tests of unclear importance. It is usually noticed in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle tiredness with exercise
- Muscle aches
- Muscle spasms
- Muscle stiffness
- Thickened skin on the palms and soles
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 genes cause this condition. GARD does not name the gene or describe how it is inherited.
Also known as: glycogen storage disease type xi; glycogenosis due to lactate dehydrogenase deficiency; gsd due to lactate dehydrogenase deficiency; ldh deficiency
Patient organizations
- Muscular Dystrophy AssociationGlycogen storage disease due to lactate dehydrogenase deficiency · United States
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