
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
IN AN INFANT WITH SEIZURES Strajnar A1, Tansek MZ2, Podkrajsek KT3,4, Battelino T2,5, Groselj U *Corresponding Author: Assistant Professor Urh Groselj, M.D., Ph.D., Department of Pediatric Endocrinology, Diabetes
and Metabolic Diseases, University Children’s Hospital, University Medical Centre Ljubljana, Bohoriceva 20, 1000 Ljubljana,
Slovenia. Tel: +386-1-5229270. Fax: +386-1-2320190. E-mail: urh.groselj@ kclj.si page: 77
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REFERENCES
1. Potter M, Hammond JW, Sim KG, Green AK, Wilcken
B. Ornithine carbamoyltransferase deficiency: Improved
sensitivity of testing for protein tolerance in
the diagnosis of heterozygotes. J Inherit Metab Dis.
2001; 24(1): 5-14.
2. Santer R, Kinner M, Passarge M, Superti-Furga A,
Mayatepek E, Meissner T, et al. Novel missense mutations
outside the allosteric domain of glutamate
dehydrogenase are prevalent in European patients
with the congenital hyperinsulinism-hyperammonemia
syndrome. Hum Genet. 2001; 108(1): 66-71.
3. Sarajlija A, Milenkovic M, Djordjevic K, Mitrovic S,
Todorovic B, Kecman Khalid H. Early presentation
of hyperinsulinism/hyperammonemia syndrome in
three Serbian ptients. J Clin Res Pediatr Endocrinol.
2015; 8(2): 228-231.
4. Stanley CA. Hyperinsulinism in infants and children.
Pediatr Clin North Am. 1997; 44(2): 363-374.
5. Senniappan S, Shanti B, James C, Hussain K. Hyperinsulinaemichypoglycaemia:
Genetic mechanisms,
diagnosis and management. J Inherit Metab Dis.
2012; 35(4): 589-601.
6. Zschocke J, Hoffmann GF. Vademecum Metabolicum.
Diagnoses and Treatment of Inborn Errors of
Metabolism, 3rd ed. Friedrichsdorf (Hesse, Germany):
Schattauer GmbH, 2011.
7. Mathew PM, Young JM, Abu-Osba YK, Mulhern BD,
Hammoudi S, Hamdan JA, et al. Persistent neonatal
hyperinsulinism. Clin Pediatr (Philadelphia). 1988;
27(3): 148-151.
8. Kapoor RR, Flanagan SE, James C, Shield J, Ellard S,
Hussain K. Hyperinsulinaemichypoglycaemia. Arch
Dis Child. 2009; 94(6): 450-457.
9. Senniappan S, Arya VB, Hussain K. The molecular
mechanisms, diagnosis and management of congenital
hyperinsulinism. Indian J Endocrinol Metab. 2013;
17(1): 19-30.
10. Stanley CA. Hyperinsulinism/hyperammonemia syndrome:
Insights into the regulatory role of glutamate
dehydrogenase in ammonia metabolism. Mol Genet
Metab. 2004; 81(1): 45-51.
11. MacMullen C, Fang J, Hsu BY, Kelly A, de Lonlay-
Debeney P, Saudubray JM, et al. Hyperinsulin-ism/
hyperammonemia syndrome in children with regulatory
mutations in the inhibitory guanosine triphos phate-binding domain of glutamate dehydrogenase.
J Clin Endocrinol Metab. 2001; 86(4): 1782-1787.
12. Kelly A, Ng D, Ferry RJ Jr, Grimberg A, Koo-McCoy
S, Thornton PS, et al. Acute insulin responses to leucine
in children with the hyperinsulinism/hyperammonemia
syndrome. J Clin Endocrinol Metab. 2001;
86(8): 3724-3728.
13. Stanley CA, Fang J, Kutyna K, Hsu BY, Ming JE,
Glaser B, et al.; HI/HA Contributing Investigators.
Molecular basis and characterization of the hyperinsulinism/
hyperammonemia syndrome: Predominance
of mutations in exons 11 and 12 of the glutamate dehydrogenase
gene. Diabetes. 2000; 49(4): 667-673.
14. Ashcroft FM. ATP-sensitive potassium channelopathies:
Focus on insulin secretion. J Clin Invest. 2005;
115(8): 2047-2058.
15. Hsu BYL, Kelly A, Thornton PS, Greenberg CR,
Dilling LA, Stanley CA. Protein-sensitive and fasting
hypoglycemia in children with the hyperinsulinism/
hyperammonemia syndrome. J Pediatr. 2001; 138(3):
383-389.
16. Stanley CA, Matschinsky FM. Historical perspective
on the genetic forms of congenital hyperinsulinism.
In: Stanley CA, De León DD, Eds. Monogenic Hyperinsulinemic
Hypoglycemia Disorders. Frontiers in
Diabetes, Vol. 21. Basel (Basel-Stadt, Switzerland):
S. Karger Ag, 2012: 1-6.
17. Sener A, Malaisse-Lagae F, Malaisse WJ. Stimulation
of pancreatic islet metabolism and insulin release by
a nonmetabolizable amino acid. Proc Natl Acad Sci
USA. 1981; 78(9): 5460-5464 (https://www.ncbi.nlm.
nih.gov/ pmc/articles/PMC348765/).
18. Gao Z, Li G, Najafi H, Wolf BA, Matschinsky FM.
Glucose regulation of glutaminolysis and its role in
insulin secretion. Diabetes. 1999; 48(8): 1535-1542.
19. Maechler P, Wollheim CB. Mitochondrial glutamate
acts as a messenger in glucose-induced insulin exocytosis.
Nature. 1999; 402(6762): 685-689.
20. Aoki TT, Muller WA, Brennan MF, Cahill Jr GF.
Blood cell and plasma amino acid levels across forearm
muscle during a protein meal. Diabetes. 1973;
22(10): 768-775.
21. Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek
E, Alaei M, et al. Genome-wide homozygosity analysis
reveals HADH mutations as a common cause of
diazoxide-responsive hyperinsulinemic-hypoglycemia
in consanguineous pedigrees. J Clin Endocrinol
Metab. 2011; 96(3): 498-502.
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