Erythrocyte Lactate Transporter Defect (SDLT)

Alias:

Metabolic Myopathy Due to Lactate Transporter Defect

Lactate Transporter Defect, Myopathy Due to

Symptomatic Deficiency in Lactate Transport

Sdlt

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Erythrocyte Lactate Transporter Defect, also known as metabolic myopathy due to lactate transporter defect, is related to dementia and dementia, lewy body. An important gene associated with Erythrocyte Lactate Transporter Defect is SLC16A1 (Solute Carrier Family 16 Member 1). Affiliated tissues include temporal lobe and liver, and related phenotypes are elevated circulating creatine kinase concentration and emg abnormality

Related ID：

MALACARDS：ERY030

OMIM：245340