Details of Disease | DrugMAP

General Information of Disease (ID: DISWIOHL)

Disease Name	Metabolic myopathy due to lactate transporter defect
Synonyms	lactate transporter defect, myopathy due to; erythrocyte lactate transporter defect
Definition	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.
Disease Hierarchy	DISSE3BW: Metabolic myopathy DISU0K94: Hereditary skeletal muscle disorder DISWIOHL: Metabolic myopathy due to lactate transporter defect
Disease Identifiers	MONDO ID MONDO_0009501 MESH ID C565449 UMLS CUI C1855577 OMIM ID 245340 MedGen ID 344529 Orphanet ID 171690 SNOMED CT ID 766715000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC16A1	TTN1J82	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A1	DT342ZG	Limited	Unknown	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC16A1	OTW1UTZ7	Limited	Unknown	[2]
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References

1	Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release.Diabetes. 2003 Jan;52(1):199-204. doi: 10.2337/diabetes.52.1.199.
2	Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. Muscle Nerve. 2000 Jan;23(1):90-7. doi: 10.1002/(sici)1097-4598(200001)23:1<90::aid-mus12>3.0.co;2-m.