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. Author manuscript; available in PMC: 2020 Dec 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Aug 14;181(4):682–692. doi: 10.1002/ajmg.c.31737

Figure 3. Genetic etiologies of HI stratified by diazoxide responsiveness.

Figure 3.

Data from 814 children with hyperinsulinism treated at the Children’s Hospital of Philadelphia. Among those with diazoxide-unresponsive HI, KATP mutations were the most common etiology identified by genetic testing: focal KATP (50%), biallelic recessive KATP (31%), monoallelic dominant KATP (7%), GCK (3%), no mutation identified (9.5%). In contrast, the most common finding among those with diazoxide-responsive HI was no identified mutation (64.5%), followed by monoallelic dominant KATP (14.5%), GLUD1 (12%), HNF4A (3%), HNF1A (3%), UCP2 (2%), and HADH (0.6%).