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IEMbase 0571: SLC16A1-related exercise-induced hyperinsulinism

Scope

Field Value
IEMbase ID 571
Nosology 4.3.05.01
Gene SLC16A1
External IDs OMIM:610021; ORPHA:438075
Generated mapping UNMAPPED; best candidate PRPS1_Superactivity.yaml
Candidate DisMech targets Congenital_Isolated_Hyperinsulinism.yaml as broad context only
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents SLC16A1-related monocarboxylate transporter 1 superactivity, with alternate label familial hyperinsulinemic hypoglycemia type 7 and abbreviation HHF7. The record is autosomal dominant, idiopathic subtype, of unknown treatability, and has no treatment rows.

Biochemical rows include decreased serum free fatty acids, low-to-normal urinary ketones, decreased ketones during hypoglycemia, normal plasma ammonia, and low blood and plasma glucose. Characteristic rows include hyperinsulinism, exercise-induced hypoglycemia, pyruvate- and exercise-stimulated insulin secretion, and syncope.

DisMech phenotype coverage

Congenital_Isolated_Hyperinsulinism.yaml lists SLC16A1 among established CHI genes in evidence text, but it does not appear to define an SLC16A1/HHF7 subtype or the inappropriate beta-cell monocarboxylate transporter expression mechanism. The generated PRPS1_Superactivity.yaml candidate is a false positive based on "superactivity" wording and does not cover SLC16A1, exercise-induced insulin secretion, or monocarboxylate transport.

Concordance and completeness

Judgement: broad congenital-hyperinsulinism context only; exact SLC16A1/HHF7 coverage remains a local gap.

IEMbase overlaps with local CHI context on hyperinsulinism, hypoketotic hypoglycemia, low glucose, and suppressed free fatty acids/ketones. The missing local content is the SLC16A1/MCT1-specific exercise/pyruvate-triggered insulin-secretion mechanism.

Curation actions

  • Reject PRPS1_Superactivity.yaml as an exact mapping.
  • Add SLC16A1/HHF7 exercise-induced hyperinsulinism to the congenital hyperinsulinism curation backlog.
  • Preserve IEMbase exercise-induced hypoglycemia, pyruvate-stimulated insulin secretion, syncope, ammonia-normal, and ketone/free-fatty-acid prompts.