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Erythrocyte lactate transporter defect

MedGen UID:
344529
Concept ID:
C1855577
Disease or Syndrome
Synonyms: LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Metabolic myopathy due to lactate transporter defect (766715000); Erythrocyte lactate transporter defect (766715000)
 
Gene (location): SLC16A1 (1p13.2)
OMIM®: 245340
Orphanet: ORPHA171690

Definition

A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SLC16A1 gene. [from SNOMEDCT_US]

Clinical features

Exercise-induced muscle cramps
MedGen UID:
383715
Concept ID:
C1855578
Finding
Sudden and involuntary contractions of one or more muscles brought on by physical exertion.
Exercise-induced muscle stiffness
MedGen UID:
343388
Concept ID:
C1855579
Finding
A type of muscle stiffness that occurs following physical exertion.
Exercise-induced muscle fatigue
MedGen UID:
340906
Concept ID:
C1855580
Finding
An abnormally increased tendency towards muscle fatigue induced by physical exercise.
Elevated serum creatine phosphokinase
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVErythrocyte lactate transporter defect
Follow this link to review classifications for Erythrocyte lactate transporter defect in Orphanet.

Recent clinical studies

Etiology

Kersseboom S, Kremers GJ, Friesema EC, Visser WE, Klootwijk W, Peeters RP, Visser TJ
Mol Endocrinol 2013 May;27(5):801-13. Epub 2013 Apr 2 doi: 10.1210/me.2012-1356. PMID: 23550058Free PMC Article
De Preter V, Arijs I, Windey K, Vanhove W, Vermeire S, Schuit F, Rutgeerts P, Verbeke K
Inflamm Bowel Dis 2012 Jun;18(6):1127-36. Epub 2011 Oct 10 doi: 10.1002/ibd.21894. PMID: 21987487
Green HJ, Burnett ME, D'Arsigny CL, O'Donnell DE, Ouyang J, Webb KA
J Appl Physiol (1985) 2008 Sep;105(3):879-86. Epub 2008 Jul 17 doi: 10.1152/japplphysiol.90458.2008. PMID: 18635880

Diagnosis

Fu J, Dumitrescu AM
Best Pract Res Clin Endocrinol Metab 2014 Mar;28(2):189-201. Epub 2013 Jul 9 doi: 10.1016/j.beem.2013.05.014. PMID: 24629861Free PMC Article
Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, Christodoulou J
Mol Genet Metab 2007 Sep-Oct;92(1-2):109-14. Epub 2007 Aug 8 doi: 10.1016/j.ymgme.2007.06.017. PMID: 17689999
Friesema EC, Jansen J, Heuer H, Trajkovic M, Bauer K, Visser TJ
Nat Clin Pract Endocrinol Metab 2006 Sep;2(9):512-23. doi: 10.1038/ncpendmet0262. PMID: 16957765
Klepper J, Garcia-Alvarez M, O'Driscoll KR, Parides MK, Wang D, Ho YY, De Vivo DC
J Clin Lab Anal 1999;13(3):116-21. PMID: 10323476

Therapy

De Preter V, Arijs I, Windey K, Vanhove W, Vermeire S, Schuit F, Rutgeerts P, Verbeke K
Inflamm Bowel Dis 2012 Jun;18(6):1127-36. Epub 2011 Oct 10 doi: 10.1002/ibd.21894. PMID: 21987487
Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, Christodoulou J
Mol Genet Metab 2007 Sep-Oct;92(1-2):109-14. Epub 2007 Aug 8 doi: 10.1016/j.ymgme.2007.06.017. PMID: 17689999
Merezhinskaya N, Fishbein WN, Davis JI, Foellmer JW
Muscle Nerve 2000 Jan;23(1):90-7. PMID: 10590411

Prognosis

Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S
Am J Hum Genet 2004 Jan;74(1):168-75. Epub 2003 Dec 5 doi: 10.1086/380999. PMID: 14661163Free PMC Article

Clinical prediction guides

Ramos HE
Endocr Dev 2014;26:108-17. Epub 2014 Aug 29 doi: 10.1159/000363158. PMID: 25231447
De Preter V, Arijs I, Windey K, Vanhove W, Vermeire S, Schuit F, Rutgeerts P, Verbeke K
Inflamm Bowel Dis 2012 Jun;18(6):1127-36. Epub 2011 Oct 10 doi: 10.1002/ibd.21894. PMID: 21987487
Green HJ, Burnett ME, D'Arsigny CL, O'Donnell DE, Ouyang J, Webb KA
J Appl Physiol (1985) 2008 Sep;105(3):879-86. Epub 2008 Jul 17 doi: 10.1152/japplphysiol.90458.2008. PMID: 18635880
Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S
Am J Hum Genet 2004 Jan;74(1):168-75. Epub 2003 Dec 5 doi: 10.1086/380999. PMID: 14661163Free PMC Article

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