KEGG   DISEASE: Erythrocyte lactate transporter defect
Entry
H01248                      Disease                                
Name
Erythrocyte lactate transporter defect
Description
Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. The patient was found to have a missense mutation in monocarboxylate transporter 1 (MCT1), the gene for the red cell lactate transporter.
Category
Musculoskeletal disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01248  Erythrocyte lactate transporter defect
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H01248  Erythrocyte lactate transporter defect
Gene
SLC16A1 [HSA:6566] [KO:K08179]
Other DBs
ICD-11: 5C53.Y
MeSH: C565449
OMIM: 245340
Reference
  Authors
Merezhinskaya N, Fishbein WN, Davis JI, Foellmer JW
  Title
Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.
  Journal
Reference
  Authors
Halestrap AP, Meredith D
  Title
The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond.
  Journal
Pflugers Arch 447:619-28 (2004)
DOI:10.1007/s00424-003-1067-2

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