Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 142 C, Issue 2, 2006, Pages 113-120

  Scaglia, Fernando ^a   Lee, Brendan ^b  

^a TEXAS CHILDREN S HOSPITAL   (United States)

^b NONE

Author keywords

Arginase I; Arginine; Hyperargininemia; Urea cycle

Indexed keywords

AMINO ACID; AMMONIA; ARGINASE; ARGININE; ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID; GLUTAMINE; NITROGEN; PROTEIN; SODIUM PHENYLDIBUTYRATE; UNCLASSIFIED DRUG; UREA;

ARGINASE 1 DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATALYSIS; CONVALESCENCE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE MARKER; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EARLY DIAGNOSIS; ENZYME ACTIVITY; ENZYME DEFICIENCY; HEPATIC ENCEPHALOPATHY; HUMAN; HYPERAMMONEMIA; HYPERGLUTAMINEMIA; INBORN ERROR OF METABOLISM; LIVER METABOLISM; NEWBORN SCREENING; ONSET AGE; PATHOGENESIS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TREATMENT OUTCOME; UREA CYCLE;

ANIMALS; ARGINASE; HUMANS; HYPERARGININEMIA;

EID: 33646496837     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30091     Document Type: Article

References (62)

1. Ash DE, Scolnick LR, Kanyo ZF, Vockley JG, Cederbaum SD, Christianson DW. 1998. Molecular basis ofhyperargininemia: Structure-function consequences of mutations in human liver arginase. Mol Genet Metab 64:243-249.
2. Bachmann C, Colombo JP. 1980. Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias. Eur J Pediatr 134:109-113.
3. Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW. 1980. Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency N Engl J Med 302:482-485.
4. Batshaw ML, MacArthur RB, Tuchman M. 2001. Alternative pathway therapy for urea cycle disorders: Twenty years later. J Pediatr 138:546-554; discussion 554-555.
5. Braga AC, Vilarinho L, Ferreira E, Rocha H. 1997. Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis. J Pediatr Gastroenterol Nutr 24:218-221.
6. Brusilow SW, Horwich AL. 2001. Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill. p 1909-1964.
7. Brusilow SW, Maestri NE. 1996. Urea cycle disorders: Diagnosis, pathophysiology, and therapy. Adv Pediatr 43:127-170.
8. Cederbaum SD, Shaw KN, Valente M. 1977. Hyperargininemia. J Pediatr 90:569-573.
9. Cederbaum SD, Shaw KN, Spector EB, Verity MA, Snodgrass PJ, Sugarman GI. 1979. Hyperargininemia with arginase deficiency Pediatr Res 13:827-833.
10. Cederbaum SD, Moedjono SJ, Shaw KN, Carter M, Naylor E, Walzer M. 1982. Treatment of hyperargininaemia due to arginase deficiency with a chemically defined diet. J Inherit Metab Dis 5:95-99.
11. Cederbaum SD, Yu H, Grody WW, Kern RM, Yoo P, Iyer RK. 2004. Arginases I and II: Do their functions overlap? Mol Genet Metab 81:S38-S44.
12. Chace DH, Kalas TA, Naylor EW 2002. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet 3:17-45.
13. Christmann D, Hirsch E, Mutschler V, Collard M, Marescaux C, Colombo JP. 1990. Late diagnosis of congenital argininemia during administration of sodium valproate. Rev Neurol (Paris) 146:764-766.
14. Crombez EA, Cederbaum SD. 2005. Hyperargininemia due to liver arginase deficiency. Mol Genet Metab 84:243-251.
15. +)-ATPase activity from rat cerebral cortex by guanidino compounds accumulating in hypetargininemia. Brain Res 838:78-84.
16. De Deyn P, Marescau B, Lornoy W, Becaus I, Lowenthal A. 1986. Guanidino compounds in uraemic dialysed patients. Clin Chim Acta 157:143-150.
17. De Deyn PP, Marescau B, Macdonald RL. 1988. Effects of alpha-keto-delta-guanidinovaleric acid on inhibitory amino acid responses on mouse neurons in cell culture. Brain Res 449:54-60.
18. De Deyn PP, Marescau B, Macdonald RL. 1991. Guanidino compounds that are increased in hyperargininemia inhibit GABA and glycine responses on mouse neurons in cell culture. Epilepsy Res 8:134-141.
19. De Deyn PP, Marescau B, Qureshi I.A. 1997. Hyperargininemia: A treatable inborn error of metabolism? In: De Deyn PP, Marescau B, Qureshi IA, Mon A, editors. Guanidino Compounds in Biology and Medicine, Volume 2. London, England: John Libbey & Company Ltd. p 53-69.
20. Dizikes GJ, Grody WW, Kern RM, Cederbaum SD. 1986. Isolation of human liver arginase cDNA and demonstration of nonhomology between the two human arginase genes. Biochem Biophys Res Commun 141:53-59.
21. Esch F, Lin KI, Hills A, Zaman K, Baraban JM, Chatterjee S, Rubin L, Ash DE, Ratan RR. 1998. Purification of a multipotent antideath activity from bovine liver and its identification as arginase: Nitric oxide-independent inhibition of neuronal apoptosis. J Neurosci 18:4083-4095.
22. + pump in epilepsy. Ann Neurol 16:5128-5134.
23. Grody WW, Argyle C, Kern RM, Dizikes GJ, Spector EB, Strickland AD, Klein D, Cederbaum SD 1989. Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis. J Clin Invest 83:602-609.
24. Grody WW, Kern RM, Klein D, Dodson AE, Wissman PB, Barsky SH, Cederbaum SD. 1993. Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme. Hum Genet 91:1-5.
25. Haraguchi Y, Takiguchi M, Amaya Y, Kawamoto S, Matsuda I, Mori M. 1987. Molecular cloning and nucleotide sequence of cDNA for human liver arginase. Proc Natl Acad Sci USA 84:412-415.
26. Hewson S, Clarke JT, Cederbaum S. 2003. Prenatal diagnosis for arginase deficiency: A case study. J Inherit Metab Dis 26:607-610.
27. Hiramatsu M, Ohba S, Edamatsu R, Kadowari D, Mori A. 1992. Effect of guanidino compounds on membrane fluidity of rat synaptosomes. In: de Deyn BM PP, Stalon V, Qureshi IA, editors. Guanidino Compounds in Biology and Medicine, Volume 1. Guilford, UK: John Libbey & Co. p 387-393.
28. Hirayasu Y, Morimoto K, Okamoto M, Otsuki S, Mori A. 1990. The changes in guanidino compounds in the brain of amygdala kindled seizure-comparisons with electric convulsive shock seizure. Jpn J Psychiatry Neurol 44:448-450.
29. Iyer R, Jenkinson CP, Vockley JG, Kern RM, Grody WW, Cederbaum S. 1998. The human arginases and arginase deficiency. J Inherit Metab Dis 21:86-100.
30. Iyer RK, Yoo PK, Kern RM, Rozengurt N, Tsoa R, O'Brien WE, Yu H, Grody WW, Cederbaum SD. 2002. Mouse model for human arginase deficiency. Mol Cell Biol 22:4491-4498.
31. Lemieux B, Auray-Blais C, Giguere R, Shapcott D, Scriver CR. 1988. Newborn urine screening experience with over one million infants in the Quebec network of genetic medicine. J Inherit Metab Dis 11:45-55.
32. Lonergan ET, Semar M, Sterzel RB, Treser G, Needle MA, Voyles L, Lange K. 1971. Erythrocyte transketolase activity in dialyzed patients. A reversible metabolic lesion of uremia. N Engl J Med 284:1399-1403.
33. Maestri NE, Lord C, Glynn M, Bale A, Brusilow SW. 1998. The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency. Medicine (Baltimore) 77:389-397.
34. Maestri NE, Clissold D, Brusilow SW. 1999. Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. J Pediatr 134:268-272.
35. Marescau B, De Deyn PP, Lowenthal A, Qureshi IA, Antonozzi I, Bachmann C, Cederbaum SD, Cerone R, Chamoles N, Colombo JP, et al. 1990. Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: Follow-up of guanidino compound levels during therapy. Pediatr Res 27:297-303.
36. Marescau B, De Deyn PP, Qureshi IA, De Broe ME, Antonozzi I, Cederbaum SD, Cerone R, Chamoles N, Gatti R, Kang SS, et al. 1992a. The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid. Metabolism 41:1021-1024.
37. Marescau B, De Deyn PP, Qureski LA, et al. 1992b. Guanidino compounds in hyperargininemia. In: De Deyn PP, Marescau B, Stalon V, Qureshi IA, editors. Guanidino Compounds in Biology and Medicine, Volume 1. London: J. Libbey. p 363-371.
38. Msall M, Batshaw ML, Suss R, Brusilow SW Mellits ED. 1984. Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N EnglJ Med 310:1500-1505.
39. Nagata N, Matsuda I, Oyanagi K. 1991. Estimated frequency of urea cycle enzymopathies in Japan. Am J Med Genet 39:228-229.
40. Naylor EW. 1981. Newborn screening of urea cycle disorders. Pediatrics 68:453-457.
41. Naylor EW, Orfanos AP, Guthrie R. 1977. A simple screening test for arginase deficiency (hyperargininemia). J Lab Clin Med 89:876-880.
42. Palacios R, Huitron C, Soberon G. 1970. Preferential hydrolysis of endogenous arginine by rat liver arginase. Biochem Biophys Res Commun 38:438-443.
43. Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U, Ligon KL, Cederbaum SD, Kern RM, Cox GF. 2003. Arginase deficiency with lethal neonatal expression: Evidence for the glutamine hypothesis of cerebral edema. J Pediatr 142:349-352.
44. Qureshi IA, Letarte J, Quellet R, Larochelle J, Lemieux B. 1983. A new French-Canadian family affected by hyperargininaemia. J Inherit Metab Dis 6:179-182.
45. Qureshi IA, Letarte J, Quellet R, Batshaw ML, Brusilovv S. 1984. Treatment of hyperargininemia with sodium benzoate and arginine-restricted diet. J Pediatr 104:473-476.
46. Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. 2004a. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr 134:27755-27825; Discussion 2796S-2797S.
47. Scaglia F, Carter S, O'Brien WE, Lee B. 2004b. Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients. Mol Genet Metab 81:S79-S85.
48. Shi O, Morris SM Jr, Zoghbi H, Porter CW, O'Brien WE. 2001. Generation of a mouse model for arginase II deficiency by targeted disruption of the arginase II gene. Mol Cell Biol 21:811-813.
49. Snyderman SE, Sansaricq C, Chen WJ, Norton PM, Phansalkar SV 1977. Argininemia. J Pediatr 90:563-568.
50. Snyderman SE, Sansaricq C, Norton PM, Goldstein F. 1979. Argininemia treated from birth. J Pediatr 95:61-63.
51. Spector EB, Kiernan M, Bernard B, Cederbaum SD. 1980. Properties of fetal and adult red blood cell arginase: A possible prenatal diagnostic test for arginase deficiency. Am J Hum Genet 32:79-87.
52. Spector EB, Rice SC, Cederbaum SD. 1983. Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients. Pediatr Res 17:941-944.
53. Terheggen HG, Schwenk A, Lowenthal A, van Sande M, Colombo JP. 1969. Argininaemia with arginase deficiency. Lancet 2:748-749.
54. Terheggen HG, Lowenthal A, Lavinha F, Colombo JP. 1975. Familial hyperargininaemia. Arch Dis Child 50:57-62.
55. Terheggen HG, Lowenthal A, Colombo JP. 1982. Clinical and biochemical findings in arginineniia. Adv Exp Med Biol 153:111-119.
56. Uchino T, Snyderman SE, Lambert M, Qureshi IA, Shapira SK, Sansaricq C, Smit LM, Jakobs C, Matsuda I. 1995. Molecular basis of phenotypic variation in patients with argininemia. Hum Genet 96:255-260.
57. van Sande M THG, Clara R, Leroy JG, Lowenthal A. 1971. Lysine cystine pattern associated with neurological disorders. In: Carson NAJ, Raine DN, editors. Inherited Disorders of Sulfur Metabolism. Edinburgh: Churchill Livingstone. p 85 -112.
58. Vockley JG, Tabor DE, Kern RM, Goodman BK, Wissmann PB, Kang DS, Grody WW, Cederbaum SD. 1994. Identification of mutations (D128G, H141L) in the liver arginase gene of patients with hyperargininemia. Hum Mutat 4:150-154.
59. Vockley JG, Goodman BK, Tabor DE, Kern RM, Jenkinson CP, Grody WW, Cederbaum SD. 1996a. Loss of function mutations in conserved regions of the human arginase I gene. Biochem Mol Med 59:44-51.
60. Vockley JG, Jenkinson CP, Shukla H, Kern RM, Grody WW, Cederbaum SD. 1996b. Cloning and characterization of the human type II arginase gene. Genomics 38:118-123.
61. Wheeler KP, Walker JA, Barker DM. 1975. Lipid requirement of the membrane sodium-plus-potassium ion-dependent adenosine triphosphatase system. Biochem J 146:713-722.
62. Wyse AT, Bavaresco CS, Hagen ME, Delwing D, Wannmacher CM, Severo Dutra-Filho C, Wajner M. 2001. In vitro stimulation of oxidative stress in cerebral cortex of rats by the guanidino compounds accumulating in hyperargininemia. Brain Res 923:50-57.