The surgical management of atypical forms of congenital hyperinsulinism
Seminars in Pediatric Surgery, 2011 Beyond the 2 classical forms of congenital hyperinsulinism, focal and diffuse, we report our experience on the surgical treatment of atypical forms. We define 2 subtypes among these atypical forms of hyperinsulinism: in case of a giant focal form the ...
Carmen Capito +2 more
exaly +2 more sources
Severe transient neonatal hyperinsulinism: First Peruvian case series [PDF]
SAGE Open Medical Case ReportsCongenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza +2 more
doaj +2 more sources
Glucose Metabolism in 105 Children and Adolescents After Pancreatectomy for Congenital Hyperinsulinism [PDF]
Diabetes Care, 2012 OBJECTIVE - To describe the long-term metabolic outcome of children with congenital hyperinsulinism after near-total or partial elective pancreatectomy.
Jacques Beltrand +2 more
exaly +2 more sources
Management of hyperinsulinism in infancy and childhood
Annals of Medicine, 2000 Hyperinsulinism (HI) in infancy presents a formidable challenge for the paediatrician as it is one of the most difficult problems to manage in contemporary paediatric endocrinology.
Khalid Hussain, A Aynsley-Green
exaly +2 more sources
Case Report: Food-based enteral formula in the nutritional management of children with hyperinsulinism: single center retrospective case series [PDF]
Frontiers in EndocrinologyContextHyperinsulinism is characterized by dysregulated insulin secretion and is typically associated with reduced fasting tolerance. Long-term hyperinsulinism management includes nutrition and medication to normalize plasma glucose levels. Management of
Graeme O’Connor +2 more
doaj +2 more sources
Frontiers in Endocrinology, 2021 IntroductionDespite improvements in diagnosis and therapeutic advances in treatment, congenital hyperinsulinism (CHI) remains a severe disease with high patient impairment.
Kaja Kristensen +2 more
doaj +2 more sources
Diagnostic Difficulties in Glucokinase Hyperinsulinism
Hormone and Metabolic Research, 2009 7 páginasGlucokinase Hyperinsulinism (GCK-HI) is a rare variant of congenital hyperinsulinism caused by activating mutations in the glucokinase gene resulting in overactivity of glucokinase within the pancreatic -cell.
Maria Adelaida Garcia-Gimeno +2 more
exaly +2 more sources
Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism. [PDF]
BMC Med GenomicsBackground CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails.
Sanders VR +3 more
europepmc +2 more sources
Hyperinsulinism–hyperammonemia syndrome associated with GLUD1 gene mutation: a case series [PDF]
Journal of Medical Case ReportsBackground Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism–hyperammonemia syndrome, results from activating mutations in the GLUD1 ...
Miral M. Abdulghfar +3 more
doaj +2 more sources
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA) [PDF]
JIMD ReportsCombined malonic and methylmalonic aciduria (CMAMMA) is an inborn error of metabolism caused by a deficiency in mitochondrial malonyl‐CoA synthetase, the enzyme responsible for activating malonic acid (MA) to malonyl‐CoA, a precursor of lipoic acid.
Vincenza Gragnaniello +9 more
doaj +2 more sources