Erythrocyte lactate transporter defect
Erythrocyte lactate transporter defect is a variant of Monocarboxylate transporter 1 deficiency, an autosomal dominant disorder, caused by loss-off-funtion mutations of the SLC16A1 gene. It presents with severe thoracic pain under heavy physical exercise.
None (1986) Lactate transporter defect: a new disease of muscle.[^]
Merezhinskaya N et al. (2000) Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.[^]
Fishbein WN et al. (1988) Clinical assay of the human erythrocyte lactate transporter. I. Principles, procedure, and validation.[^]
Fishbein WN et al. (1988) Clinical assay of the human erythrocyte lactate transporter. II. Analysis and display of normal human data.[^]
OMIM.ORG articleOmim 245340 [^]
Orphanet articleOrphanet ID 171690 [^]