Long-term outcome of a child with hyperinsulinism- hyperammonaemia syndrome
نویسندگان
چکیده
منابع مشابه
Long-term outcome of a child with hyperinsulinism- hyperammonaemia syndrome
Methods A male infant was born at 38 gestational weeks with birth weight of 3.605 kg. He presented with convulsion at 28 days of life. Physical examination was unremarkable. He was initially treated as meningoencephalitis. CT brain was unremarkable. Bacterial and viral cultures were negative. Plasma glucose upon admission was 1.2 mmol/l with negative urine ketone. Glucose infusion was high up t...
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Hyperinsulinism-hyperammonaemia syndrome (HHS) is a rare cause of congenital hyperinsulinism, due to missense mutations in the GLUD1 gene, resulting in glutamate dehydrogenase (GDH) overactivity. The aim of this study was to document the spectrum of neurological disturbances associated with HHS and to identify possible phenotype-genotype correlations. We retrospectively analyzed the neurologica...
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Hyperinsulinism-hyperammonaemia syndrome (HI-HA) is a rare cause of congenital hyperinsulinism.1 The association of hypoglycaemia and hyperammonaemia in a neonate is highly suggestive of the disease. This syndrome is an inborn metabolic error caused by mutations in the GLUD1 gene, a gene that is located on chromosome 10q23.3 and that codes for the glutamate dehydrogenase (GDH) enzyme. The GLUD1...
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متن کاملLong-term follow-up of 114 patients with congenital hyperinsulinism.
BACKGROUND The term congenital hyperinsulinism (CHI) comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia. OBJECTIVE To evaluate the clinical presentation, diagnostic criteria, treatment and long-term follow-up in a large cohort of CHI patients. PATIENTS The data from 114 patients from different hospitals were obtain...
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ژورنال
عنوان ژورنال: International Journal of Pediatric Endocrinology
سال: 2013
ISSN: 1687-9856
DOI: 10.1186/1687-9856-2013-s1-p182