metabolic myopathy due to lactate transporter defect
Findings
No curated finding names metabolic myopathy due to lactate transporter defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.
Definition from the Mondo Disease Ontology (MONDO:0009501), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 5 of 5 reported patients
- EMG abnormalityHPOHP:0003457
- 0 of 5 reported patients
- Exercise-induced muscle crampsHPOHP:0003710
- Exercise-induced muscle fatigueHPOHP:0009020
- Exercise-induced muscle stiffnessHPOHP:0008967
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC16A1HGNC:10922
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
Other names
1 name
Resolves to: metabolic myopathy due to lactate transporter defect
- Also called
- erythrocyte lactate transporter defect