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.
|Erythrocyte lactate transporter defect|
|Fanconi renotubular syndrome|
|Lysinuric protein intolerance|
|Monocarboxylate transporter 1 deficiency|
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