Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

metabolic myopathy due to lactate transporter defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

metabolic myopathy due to lactate transporter defect

MONDO:0009501

Also known as:erythrocyte lactate transporter defectlactate transporter defect, myopathy due to

Overview

Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.

GeneticsAutosomal dominant · SLC16A1 (chr 1)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration). 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Exercise-induced muscle fatigue, Exercise-induced muscle cramps, Exercise-induced muscle stiffness

Genetic Landscape

SLC16A1 function has not been fully characterized.

Metabolic myopathy due to lactate transporter defect is associated with mutations in the SLC16A1 gene on chromosome 1.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SLC16A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for metabolic myopathy due to lactate transporter defect has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for metabolic myopathy due to lactate transporter defect.

18 publications have been identified in PubMed for metabolic myopathy due to lactate transporter defect. Research spans Basic Science / Preclinical (39%), Case Report / Case Series (28%), and Epidemiology / Natural History (11%).

Research Type	Count	% of Total
Laboratory research	7	39%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:245340

Orphanet

European rare disease database

Orphanet:171690

GARD

Genetic and Rare Diseases Info Center

GARD:17067

Questions for Your Care Team

→Should I pursue genetic testing for SLC16A1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

metabolic myopathy due to lactate transporter defect

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

metabolic myopathy due to lactate transporter defect

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications