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Metabolic myopathy due to lactate transporter defect

Synonyms
Erythrocyte lactate transporter defect; LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO

Summary

A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene. [from SNOMEDCT_US]

Available tests

26 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (26 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HHF7, MCT, MCT1, MCT1D, SLC16A1
    Summary: solute carrier family 16 member 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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