A syndrome of congenital hyperinsulinism and hyperammonemia
Weinzimer S, Stanley C, Berry G, Yudkoff M, Tuchman M, Thornton P. A syndrome of congenital hyperinsulinism and hyperammonemia. The Journal Of Pediatrics 1997, 130: 661-664. PMID: 9108870, DOI: 10.1016/s0022-3476(97)70256-7.Peer-Reviewed Original ResearchConceptsCongenital hyperinsulinismLarge glycemic responseAcid levelsFree fatty acid levelsUrea cycle enzyme defectsElevated insulin levelsDiagnosis of hyperinsulinismUrinary amino acidsOrotic acid levelsUrinary orotic acid levelsAdministration of glucagonFatty acid levelsAutosomal recessive variantInsulin levelsBenzoate therapyProtein restrictionInsulin secretionUnusual syndromeUrinary organic acidsHyperammonemic disordersGlycemic responseHyperinsulinismPatientsProtein feedingRecessive variants