References
Hsu BYL, Kelly A, Thornton PS, Greenberg CR, Dilling LA, Stanley CA (2001) Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome. J Pediatr 138: 383–389
MacMullen C, Fang J, Hsu BYL, Kelly A, de Lonlay-Debeney P, Saudubray JM, Ganguly A, Smith TJ, Stanley CA, Hyperinsulinism/hyperammonemia Contributing Investigators (2001) Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase. J Clin Endocrinol Metab 86: 1782–1787
Meissner T, Mayatepek E (2002) Clinical and genetic heterogeneity in congenital hyperinsulinism. Eur J Pediatr 161: 6–20
Stanley CA, Lieu YK, Hsu BYL, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M (1998) Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 338: 1352–1357
Stanley CA, Fang J, Kutyna K, Hsu BYL, Ming JE, Glaser B, Poncz M (2000) Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators. Diabetes 49: 667–673
Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M, Thornton PS (1997) A syndrome of congenital hyperinsulinism and hyperammonemia. J Pediatr 130: 661–664
Zammarchi E, Filippi L, Novembre E, Donati MA (1996) Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concominant hyperammonemia. Metabolism 45: 957–960
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Toriumi, Y., Murata, K., Taketani, T. et al. A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment. Eur J Pediatr 164, 182–183 (2005). https://doi.org/10.1007/s00431-004-1592-9
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-004-1592-9