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metabolic myopathy due to lactate transporter defect

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description 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.
Uniprot Description Deficiency of lactate transporter may result in an acidic intracellular environment created by muscle activity with consequent degeneration of muscle and release of myoglobin and creatine kinase. This defect might compromise extreme performance in otherwise healthy individuals.
Mondo Term and Equivalent IDs
MONDO:0009501:  metabolic myopathy due to lactate transporter defect
MESH:C565449: 
Orphanet:171690: 
SCTID:766715000: 
UMLS:C1855577: