Familial hyperinsulinaemic hypoglycaemia 7
Coded by SLC16A1 at 1p13.2-p12 for a 500 amino acid peptide. Allows the rapid transport across the plasma membrane of acetate, lactate, pyruvate, acetoacetate, beta-hydroxybutyrate and branched-chain oxo acids derived from leucine, valine and isoleucine.
- Symptomatic deficiency in lactate transport (SDLT, erythrocyte lactate transporter defect)
- Release of myoglobin and creatine kinase on extreme exercise.
- Familial hyperinsulinaemic hypoglycaemia type 7 (HHF7, exercise-induced hyperinsulinaemic hypoglycaemia
- Inappropriate insulin secretion during anaerobic exercise or on pyruvate load.