L'ipoglicemia da iperinsulinismo: La diagnosi, le cause, la gestione: Descrizionedi un caso clinico e breve revisione della letteratura

Translated title of the contribution: Hypoglycaemia due to hyperinsulinism: Diagnosis, causes and management

Federico Marchetti, Vanna Graziani, Michela Cappella, Giuseppe Vieni, Claudia Muratori, Teresa Tosi, Martina La Bianca, Flavio Faletra

Research output: Contribution to journalArticlepeer-review


The paper describes the case of a 3-month-old girl with seizures due to persistent nonketotic hypoglicaemia with moderate iperammoniaemia. Once tyrosinemia, urea cycle disorders, deficit of fatty-acids-beta-oxidation and other organic acidurias had been excluded, in consideration of the positive response to glucagon test and elevation of alfa-ketoglutaric-acid in urine, a specific form of congenital hyperinsulinaemic hypoglicaemia was suspected. The genetic analysis confirmed a mutation of GLUD1, encoding glutamate dehydrogenase. Clinical response to diazoxide treatment was optimal with normal fasting blood glucose levels. Congenital hyperinsulinaemic hypoglicaemia (CHH) represents a group of clinically, genetically and morphologically heterogeneous disorders, secondary to disregulation of insulin secretion by pancreatic beta-cells. GLUD1 mutations lead to hyperinsulinism/hyperammonaemia syndrome (HI/HA) characterized by asymptomatic hyperammonaemia, usually diazoxide-responsive symptomatic hypoglycaemia, seizures and learning disabilities. For a timely diagnosis of CHH, a critical sample and a glucagon stimulation test should be performed during hypoglycaemic events. Diazoxide is the firstline drug for management and a trial should be tried to facilitate differential diagnosis of genetic forms. The paper highlights the importance of early identification and appropriate treatment of these patients to prevent severe neurological insult.

Translated title of the contributionHypoglycaemia due to hyperinsulinism: Diagnosis, causes and management
Original languageItalian
Pages (from-to)309-314
Number of pages6
JournalMedico e Bambino
Issue number5
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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