deficiency in lactate transport (erythrocyte lactate transporter defect)

Pathology

• acidic intracellular environment created by muscle activity
• consequent degeneration of muscle
• release of myoglobin & creatine kinase

Genetics

• associated with defects in SLC16A1

Clinical manifestations

• might compromise extreme performance in otherwise healthy individuals

Database

• OMIM: https://mirror.omim.org/entry/245340