A syndrome of congenital hyperinsulinism and hyperammonemia

Journal of Pediatrics

Volumn 130, Issue 4, 1997, Pages 661-664

  Weinzimer, S A ^a   Stanley, C A ^a   Berry, G T ^a   Yudkoff, M ^a   Tuchman, M ^a   Thornton, P S ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; ARGININE; ASPARAGINE; ASPARTIC ACID; CITRULLINE; CYSTINE; GLYCINE; HISTIDINE; ISOLEUCINE; LEUCINE; LYSINE; METHIONINE; ORNITHINE; PROLINE; SERINE; THREONINE; TYROSINE; VALINE;

AMINO ACID BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; HUMAN; HYPERAMMONEMIA; HYPERINSULINISM; HYPOGLYCEMIA; INSULIN RESPONSE; MALE; NEWBORN; PRIORITY JOURNAL; PROTEIN RESTRICTION; SYNDROME; UREA CYCLE;

EID: 0030785535     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)70256-7     Document Type: Article

References (22)

1. CA Stanley L. Baker Hyperinsulinism in infants and children: diagnosis and therapy Adv Pediatr 23 3 1976 15 55
2. PS Thornton B Glaser K Herold KC Chiu M Satin-Smith MA Permutt Familial hyperinsulinism (HI) inherited in an autosomal dominant (AD) form differs clinically and genetically from the more common autosomal recessive (AR) form [abstract 587] Pediatr Res 37 1995 100A
3. PS Thornton AE Sumner ED Ruchelli RS Spielman L Baker CA. Stanley Familial and sporadic hyperinsulinism: histopathology and segregation analysis support a single autosomal recessive disorder J Pediatr 119 1991 721 724
4. DA Woolf JV Leonard Trembath ME Pembrey DB. Grant Nesidioblastosis: evidence for autosomal recessive inheritance Arch Dis Child 66 1991 529 530
5. B Glaser M Phillip R Carmi E Lieherman H Landau Persistent hyperinsulinemic hypoglycemia of infancy (“nesidioblastosis”): autosomal recessive inheritance in 7 pedigrees Am J Med Genet 37 1990 511 515
6. L Aguilar-Bryan CG Nichols SW Wechsler Cloning of the beta cell high affiniity sulfonylurea receptor: a regulator of insulin secretion Science 268 1995 423 426
7. PM Thomas GJ Cote N Wohlik Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy Science 268 1995 426 429
8. B Glaser KC Chiu R Anker Familial hyperinsulinism maps to human chromosome 11p14-15.1, 30 cM centromeric to the insulin gene Nature Genet 7 2 1994 185 188
9. DN Finegold CA Stanley L. Baker Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism J Pediatr 96 1980 257 259
10. CA Stanley L. Baker Hyperinsulinism in infancy: diagnosis by demonstration of abnormal reponse to fasting hypoglycemia Pediatrics 57 1976 702 711
11. SW Brusilow AL. Horwich Urea cycle enzymes 7th ed CR Schriver AL Beaude WS Sly D Valle The metabolic and molecular bases of inherited disease. 1995 McGraw-Hill, Health Professions Division New York 1187 1232
12. SE. Snyderman Clinical aspects of disorders of the urea cycle Pediatrics 68 1981 284 289
13. PJ. Snodgrass Biochemical aspects of the urea cycle disorders Pediatrics 68 1981 273 283
14. C Bachmann S Krahenbuhl JP Colombo N -acetylglutamate synthetase deficiency: a disorder of ammonia detoxication N Engl J Med 304 1981 543
15. C Bachmann JP Colombo K Jaggi N -acetylglutamate synthetase deficiency: diagnosis, clinical observation and treatment Adv Exp Med Biol 153 1982 39 45
16. ON Elpeleg JP Colombo N Amir C Bachmann H Hurvitz Late-onset form of partial N -acetylglutamate synthetase deficiency Eur J Pediatr 149 1990 634 636
17. AL Pandya R Koch FA Hommes JC Williams N -acetylglutamate synthetase deficiency: clinical and laboratory observations J Inher Metab Dis 14 1991 685 690
18. G Schubigert C Bachmann P Barben JP Colombo O Tonz D Schupbach N -acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication Eur J Pediatr 150 1991 353 356
19. AB Burlina C Bachmann B Wermuth A Bordugo V Ferrari JP Columbo Partial N -acetylglutamate synthetase deficiency: a new case with uncontrollable movement disorders J Inher Metab Dis 15 1992 395 398
20. J Vockley CM Walsh Vockley S Lin M Tuchman T Wu C Lin Normal N -acetylglutamate concentration measured in a liver from a new patient with N -acetylglutamate synthetase deficiency: physiologic and biochemical implications Biochem Med Metab Biol 47 1992 38 46
21. S Sener WJ Malaisse L -Leucine and a nonmetabolized analogue activate pancreatic islet glutamate dehydrogenase Nature 288 1980 187 189
22. WJ Malaisse S Abdulla F. Malaisse-Lagae Insulin release: reconciliation of the receptor and metabolic hypotheses Mol Cell Biochem 37 1981 157 165