Familial hyperinsulinaemic hypoglycaemia 7

From Ganfyd

Jump to: navigation, search
Web Resources for Familial hyperinsulinaemic hypoglycaemia 7


Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Wikipedia on Familial hyperinsulinaemic hypoglycaemia 7 (Less technical, ? quality control)
Common Name:Familial hyperinsulinaemic hypoglycaemia 7
Other Names, such as IUPAC Name
MCT 1
Biochemical Information
Molecular Structure
Important Issues in Man
Relevant Clinical Literature
UK Guidance
Other Wikis
Wikipedia on Familial hyperinsulinaemic hypoglycaemia 7 (Less technical, ? quality control)

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.

Deficiencies cause:

  • 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.
  • Ketoacidosis
Personal tools