Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Systematic

Aminoaciduria
Cystinuria
Dicarboxylic aminoaciduria
Erythrocyte lactate transporter defect
SLC16A1
Fanconi renotubular syndrome
Fanconi-Bickel syndrome
Hartnup disorder
Hyperglycinuria
Iminoglycinuria
Lysinuric protein intolerance
Monocarboxylate transporter 1 deficiency
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

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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3.

Fishbein WN et al. (1988) Clinical assay of the human erythrocyte lactate transporter. I. Principles, procedure, and validation.

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4.

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 [^]
6.

Orphanet article

Orphanet ID 171690 [^]
Update: April 29, 2019