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C131839Level 9

Monocarboxylate Transporter 1 Hyperinsulinism

**Semantic type:** Disease or Syndrome

**Definition:** Hyperinsulinism due to mutation(s) in the regulatory region of the SLC16A1 gene, encoding monocarboxylate transporter 1 (MCT1). The mutation(s) result in aberrant expression of MCT1 in the beta cell, leading to inappropriate insulin secretion and hypoglycemia triggered by anaerobic exercise.

**Synonyms:** - Exercise-induced Hyperinsulinism - MCT1 Hyperinsulinism

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