KEGG DISEASE: Monocarboxylate transporter 1 deficiency

KEGG

DISEASE: Monocarboxylate transporter 1 deficiency

Entry

H01248                      Disease

Name

Monocarboxylate transporter 1 deficiency

Subgroup

Erythrocyte lactate transporter defect

Description

Erythrocyte lactate transporter defect is a rare condition characterized by severe chest pain and muscle cramping on vigorous exercise. Patients were found to have missense mutations in monocarboxylate transporter 1 (MCT1), the gene for the lactate transporter. Recently, it has been reported that MCT1 deficiency also cause profound ketoacidosis.

Category

Inherited metabolic disorder

Brite

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  Monocarboxylate transporter 1 deficiency
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06535  Efferocytosis
   H01248  Monocarboxylate transporter 1 deficiency

Network

nt06535 Efferocytosis

Gene

SLC16A1 [HSA:6566] [KO:K08179]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Merezhinskaya N, Fishbein WN, Davis JI, Foellmer JW

Title

Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport.

Journal

Muscle Nerve 23:90-7 (2000)
DOI:10.1002/(SICI)1097-4598(200001)23:1<90::AID-MUS12>3.0.CO;2-M

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

Reference

Authors

van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G

Title

Monocarboxylate transporter 1 deficiency and ketone utilization.

Journal

N Engl J Med 371:1900-7 (2014)
DOI:10.1056/NEJMoa1407778

LinkDB

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