Document Detail

Congenital hyperinsulinism with hyperammonaemia.
MedLine Citation:
PMID:  22315648     Owner:  NLM     Status:  In-Data-Review    
Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia. Metabolic workup revealed hyperinsulinism combined with mild hyperammonaemia as well as elevation of α-ketoglutarate in urine. Genetic testing demonstrated a de novo mutation in exon 7 of the glutamate dehydrogenase gene on chromosome 10. Episodes of hypoglycaemia responded to treatment with diazoxide. The differential diagnosis, pathophysiology and treatment of congenital hyperinsulinism is discussed.
Alex Pschibul; Jörg Müller; Hubert Fahnenstich
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Publication Detail:
Type:  Journal Article     Date:  2010-02-08
Journal Detail:
Title:  BMJ case reports     Volume:  2010     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2010  
Date Detail:
Created Date:  2012-02-08     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  -    
St Elisabethen Hospital, Paediatrics, Feldbergstr 15, Lörrach, 79359, Germany.
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