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References OMIM Gene GeneReviews HGMD HGNC
last update : 19/07/2006
Symbol MCTD
Location 1p13.2
Name monocarboxylic acid transporter deficiency
Other name(s) erythrocyte lactate transporter defect
Corresponding gene SLC16A1
Main clinical features brief episodes of severe, diffuse pain after exercise, with deficiency of lactate transporter in both striated muscles and red blood
Genetic determination
Function/system disorder metabolism/lipoprotein-lipid
Type disease