Autosomal dominant hyperinsulinism due to SUR1 deficiency
Name: |
Autosomal dominant hyperinsulinism due to SUR1 deficiency
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Description: |
A form of congenital diazoxide-sensitive diffuse hyperinsulinism due to ABCC8 variants and characterized by hypoglycemic episodes that are usually mild, escaping detection during infancy, and usually have a good clinical response to diazoxide. The autosomal dominant hyperinsulinism usually has a milder phenotype when compared to that resulting from recessive potassium (K-ATP) channel mutations.
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ORPHAcode: |
276575
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Synonyms: |
Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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