CONGENITAL HYPERINSULINISM (HYPERAMMONEMIA HYPERINSULINISM)
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2015, Vol 2, Issue 9
Abstract
BACKGROUND: Congenital hyperinsulinism causing hypoglycemia. CASE CHARACTERISTICS: 1yr child with hypoglycemic convulsion. OBSERVATION: High insulin levels on fasting, hyperammonemia, diffuse hyperplasia of pancreas on PET dopa scan. OUTCOME: Good response to frequent glucose feeds and diazoxide. MESSAGE: Any child presenting with convulsion needs blood sugar estimation and hypoglycemia if any, should be thoroughly investigated. Congenital hyperinsulinism comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia due to inappropriate secretion of insulin by pancreatic β-islet cells. Hyperammonemia hyperinsulinism is due to type-3 diffuse hyperinsulinism transmitted as autosomal dominant due to mutation in glutamate dehydrogenase gain of function mutation.1, 2
Authors and Affiliations
Garuda Rama
Keywords
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- EP ID EP226208
- DOI 10.18410/jebmh/2015/192
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