Living with Metabolic myopathy due to lactate transporter defect
A rare inherited muscle condition with cramps and stiffness after exercise, especially in the heat.
Understanding Metabolic myopathy due to lactate transporter defect
Problems are most noticeable in the heat. People may have muscle breakdown after exercise (rhabdomyolysis), dark urine from muscle protein (myoglobinuria), and high levels of creatine kinase, a muscle enzyme, in the blood.
Signs & symptoms
GARD doesn't list a separate symptom list, but its summary describes these:
- Muscle cramps after exercise
- Muscle stiffness after exercise
- Muscle breakdown after exertion (rhabdomyolysis)
- Dark urine from muscle protein (myoglobinuria)
- High muscle enzyme (creatine kinase) in the blood
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 and genetic specialists.
- 3Consider genetic testing
Changes in SLC16A1 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
- 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 SLC16A1 gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: erythrocyte lactate transporter defect; lactate transporter defect, myopathy due to
Patient organizations
- Muscular Dystrophy AssociationMetabolic myopathy due to lactate transporter defect · United States
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