Erythrocyte lactate transporter defect

Definition:

Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. The patient was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter.

References:

[1]. Andrew P Halestrap, et al. The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. Pflugers Arch. 2004 Feb;447(5):619-28. [Content Brief]

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