Congenital hyperinsulinism with hyperammonaemia
نویسندگان
چکیده
منابع مشابه
Neurological aspects in hyperinsulinism-hyperammonaemia syndrome.
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...
متن کاملLong-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...
متن کامل[Congenital hyperinsulinism].
In the last five years, our knowledge about the heterogenous syndrome of congenital hyperinsulinism (HI) has expanded explosively. HI may be familiar or sporadic, mild or severe, transitory or persistent, and histologically focal or diffuse. At least 63 disease-causing mutations have been found in the genes for the beta cell's ATP-dependent potassium channel, whose elements are the sulphonylure...
متن کاملHyperinsulinism and hyperammonaemia syndrome and severe myoclonic epilepsy of infancy.
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...
متن کاملA Case Series: Congenital Hyperinsulinism
INTRODUCTION Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell's function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause o...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Case Reports
سال: 2010
ISSN: 1757-790X
DOI: 10.1136/bcr.08.2009.2174