Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
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None (1986) Lactate transporter defect: a new disease of muscle. 
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| 2. |
Merezhinskaya N et al. (2000) Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.
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Fishbein WN et al. (1988) Clinical assay of the human erythrocyte lactate transporter. I. Principles, procedure, and validation.
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Fishbein WN et al. (1988) Clinical assay of the human erythrocyte lactate transporter. II. Analysis and display of normal human data.
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| 5. |
OMIM.ORG article Omim 245340
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| 6. |
Orphanet article Orphanet ID 171690
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