erythrocyte lactate transporter defect


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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.
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