Hyperinsulinism-hyperammonemia syndrome

Common Name(s)

Hyperinsulinism-hyperammonemia syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hyperinsulinism-hyperammonemia syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hyperinsulinism-hyperammonemia syndrome" returned 4 free, full-text research articles on human participants. First 3 results:

Hyperinsulinism/hyperammonemia (HI/HA) syndrome due to a mutation in the glutamate dehydrogenase gene.
 

Author(s): Maria Lúcia Corrêa-Giannella, Daniel Soares Freire, Ana Mercedes Cavaleiro, Maria Angela Zanella Fortes, Ricardo Rodrigues Giorgi, Maria Adelaide Albergaria Pereira

Journal: Arq Bras Endocrinol Metabol. 2012 Nov;56(8):485-9.

 

The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a rare autosomal dominant disease manifested by hypoglycemic symptoms triggered by fasting or high-protein meals, and by elevated serum ammonia. HI/HA is the second most common cause of hyperinsulinemic hypoglycemia of infancy, ...

Last Updated: 8 Jan 2013

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[Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide].
 

Author(s): C Montero Luis, J Pozo Román, María T Muñoz Calvo, G Martos Moreno, María A Donoso, O Rubio Cabezas, J Argente Oliver

Journal: An Pediatr (Barc). 2004 Nov;61(5):433-7.

 

Hyperinsulinism-hyperammonemia syndrome is characterized by recurrent and symptomatic hypoglycemias in childhood, secondary to hyperinsulinism associated with mild and asymptomatic hyperammonemia. This syndrome is caused by dominantly expressed mutations of the glutamate dehydrogenase ...

Last Updated: 8 Nov 2004

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Acute insulin responses to leucine in children with the hyperinsulinism/hyperammonemia syndrome.
 

Author(s): A Kelly, D Ng, R J Ferry, A Grimberg, S Koo-McCoy, P S Thornton, C A Stanley

Journal: J. Clin. Endocrinol. Metab.. 2001 Aug;86(8):3724-8.

 

Mutations of glutamate dehydrogenase cause the hyperinsulinism/hyperammonemia syndrome by desensitizing glutamate dehydrogenase to allosteric inhibition by GTP. Normal allosteric activation of glutamate dehydrogenase by leucine is thus uninhibited, leading us to propose that children ...

Last Updated: 14 Aug 2001

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Reviews from the PubMed Database

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The terms "Hyperinsulinism-hyperammonemia syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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