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Metabolic myopathy due to lactate transporter defect

MedGen UID:
344529
•Concept ID:
C1855577
•
Disease or Syndrome
Synonyms: Erythrocyte lactate transporter defect; LACTATE TRANSPORTER DEFECT, MYOPATHY DUE TO
SNOMED CT: Metabolic myopathy due to lactate transporter defect (766715000); Erythrocyte lactate transporter defect (766715000)
 
Gene (location): SLC16A1 (1p13.2)
 
Monarch Initiative: MONDO:0009501
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

From HPO
EMG abnormality
MedGen UID:
99199
•Concept ID:
C0476403
•
Finding
Abnormal results of investigations using electromyography (EMG).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Exercise-induced muscle stiffness
MedGen UID:
343388
•Concept ID:
C1855579
•
Finding
A type of muscle stiffness that occurs following physical exertion.
See: Feature record | Search on this feature
Exercise-induced muscle fatigue
MedGen UID:
340906
•Concept ID:
C1855580
•
Finding
An abnormally increased tendency towards muscle fatigue induced by physical exercise.
See: Feature record | Search on this feature
Elevated circulating creatine kinase concentration
MedGen UID:
69128
•Concept ID:
C0241005
•
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetabolic myopathy due to lactate transporter defect
Follow this link to review classifications for Metabolic myopathy due to lactate transporter defect in Orphanet.

Professional guidelines

PubMed

Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.
Krude H, Biebermann H, Schuelke M, Müller TD, Tschöp M
Exp Clin Endocrinol Diabetes 2020 Jun;128(6-07):414-422. Epub 2020 Apr 2 doi: 10.1055/a-1108-1456. PMID: 32242326

Recent clinical studies

Diagnosis

Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.
van Geest FS, Groeneweg S, Popa VM, Stals MAM, Visser WE
J Clin Endocrinol Metab 2023 Dec 21;109(1):e330-e335. doi: 10.1210/clinem/dgad412. PMID: 37450560Free PMC Article
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.
Schwartz CE, Stevenson RE
Best Pract Res Clin Endocrinol Metab 2007 Jun;21(2):307-21. doi: 10.1016/j.beem.2007.03.009. PMID: 17574010Free PMC Article

Therapy

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.
Refetoff S, Pappa T, Williams MK, Matheus MG, Liao XH, Hansen K, Nicol L, Pierce M, Blasco PA, Wiebers Jensen M, Bernal J, Weiss RE, Dumitrescu AM, LaFranchi S
Thyroid 2021 May;31(5):713-720. Epub 2020 Sep 25 doi: 10.1089/thy.2020.0306. PMID: 32746752Free PMC Article
Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.
Krude H, Biebermann H, Schuelke M, Müller TD, Tschöp M
Exp Clin Endocrinol Diabetes 2020 Jun;128(6-07):414-422. Epub 2020 Apr 2 doi: 10.1055/a-1108-1456. PMID: 32242326

Prognosis

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P, Demeneix BA, Remaud S
Front Endocrinol (Lausanne) 2020;11:283. Epub 2020 May 13 doi: 10.3389/fendo.2020.00283. PMID: 32477268Free PMC Article

Clinical prediction guides

Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.
van Geest FS, Groeneweg S, Popa VM, Stals MAM, Visser WE
J Clin Endocrinol Metab 2023 Dec 21;109(1):e330-e335. doi: 10.1210/clinem/dgad412. PMID: 37450560Free PMC Article
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.
Masnada S, Sarret C, Antonello CE, Fadilah A, Krude H, Mura E, Mordekar S, Nicita F, Olivotto S, Orcesi S, Porta F, Remerand G, Siri B, Wilpert NM, Amir-Yazdani P, Bertini E, Schuelke M, Bernard G, Boespflug-Tanguy O, Tonduti D
Mol Genet Metab 2022 Jan;135(1):109-113. Epub 2021 Dec 16 doi: 10.1016/j.ymgme.2021.12.003. PMID: 34969638
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P, Demeneix BA, Remaud S
Front Endocrinol (Lausanne) 2020;11:283. Epub 2020 May 13 doi: 10.3389/fendo.2020.00283. PMID: 32477268Free PMC Article
Preliminary observations on high energy phosphates and metabolic pathway and transporter potentials in extensor carpi radialis brevis and trapezius muscles of women with work-related myalgia.
Green HJ, Ranney D, Burnett M, Galvin P, Kyle N, Lounsbury D, Ouyang J, Smith IC, Stewart R, Tick H, Tupling AR
Can J Physiol Pharmacol 2014 Nov;92(11):953-60. Epub 2014 Sep 26 doi: 10.1139/cjpp-2014-0218. PMID: 25358071

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