erythrocyte lactate transporter defect

(redirected from myopathy due to lactate transporter defect)

erythrocyte lactate transporter defect

An inherited deficiency of lactate transporter (OMIM:245340) that results in an acidic intracellular environment following vigourous exercise, causing muscle degeneration and release of myoglobin and creatine kinase.

Molecular pathology
Caused by defects of SLC16A1, which encodes a proton-coupled transporter that catalyses the movement of monocarboxylates (e.g., lactate and pyruvate) and ketone bodies across the plasma membrane.