Literature DB >> 20589481

Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.

V Ilamaran1, C Venkatesh, K Manish, B Adhisivam.   

Abstract

Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in infancy. While most of the cases are sporadic more than 100 mutations have been reported in the familial type. The authors report a case of familial hyperinsulinemic hypoglycemia with homozygous T294M mutation of the KCNJ11 gene, which responded to diazoxide therapy.

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Year:  2010        PMID： 20589481     DOI： 10.1007/s12098-010-0100-7

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  3 in total

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Authors:  C James; R R Kapoor; D Ismail; K Hussain
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3.  Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism.

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Journal:  EMBO Mol Med       Date:  2009-06       Impact factor: 12.137
  3 in total
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1.  Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time.

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  1 in total

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