Autosomal dominant hereditary disorder
Autosomal dominant hereditary disorder
Digestive system hereditary disorder
Digestive system hereditary disorder
Hereditary disorder of endocrine system
Hereditary disorder of endocrine system
Hereditary metabolic disease
Hyperinsulinism
Hyperinsulinism
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Exercise-induced hyperinsulinism (disorder)
Exercise-induced hyperinsulinism
Exercise-induced hyperinsulinemic hypoglycemia
A form of diazoxide-sensitive diffuse hyperinsulinism characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells. Patients present with recurring episodes of hypoglycemia associated with elevated insulin levels, within 30 minutes of a short period of anaerobic exercise. The degree of hypoglycemia associated with exercise is variable and is only partially responsive to diazoxide. Mutations in the promoter element of SLC16A1 leads to an inappropriate presence of monocarboxylic acid transporter 1(MCT1). Mutations of the promoter region of SLC16A1 that permit gene expression in pancreatic beta-cells identified to date are dominant.
hyperinsulinisme door inspanning
Id715830008
StatusPrimitive
Finding siteEndocrine pancreatic structure
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE16.1
RuleTRUE
AdviceALWAYS E16.1
CorrelationSNOMED CT source code to target map code correlation not specified