Argininosuccinate lyase deficiency-Argininosuccinic aciduria and beyond

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 157, Issue 1, 2011, Pages 45-53

  Erez, Ayelet ^a   Nagamani, Sandesh C Sreenath ^b   Lee, Brendan ^c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Internist and a clinical geneticist ^*  (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Arginine; Argininosuccinate lyase; Argininosuccinic aciduria; Nitric oxide; Urea cycle

Indexed keywords

AGMATINE; ALANINE AMINOTRANSFERASE; AMMONIA; ARGININE; ARGININE DECARBOXYLASE; ARGININOSUCCINATE LYASE; ASPARTATE AMINOTRANSFERASE; CREATINE; GLUCOSE; GLUTAMIC ACID; NITRIC OXIDE; NITRIC OXIDE SYNTHASE; ORNITHINE; POLYAMINE DERIVATIVE; PROLINE; UREA;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARGININE SUPPLEMENTATION; ARGININOSUCCINIC ACIDURIA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOSOMAL RECESSIVE DISORDER; BIOCHEMISTRY; CLINICAL FEATURE; DISEASE CONTROL; HEPATOMEGALY; HUMAN; HYPERAMMONEMIA; LIVER BIOPSY; LIVER FIBROSIS; LONG TERM CARE; MOLECULAR DYNAMICS; MOLECULAR GENETICS; NEWBORN; NEWBORN SCREENING; NONHUMAN; PATHOPHYSIOLOGY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN RESTRICTION; SUPPLEMENTATION; TREATMENT INDICATION; UREA CYCLE DISORDER;

ARGINASE; ARGININE; ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACID; ARGININOSUCCINIC ACIDURIA; CARBOXY-LYASES; HUMANS; HYPERAMMONEMIA; INFANT, NEWBORN; LIVER DISEASES; NEONATAL SCREENING; NITRIC OXIDE SYNTHASE; ORNITHINE; UREA CYCLE DISORDERS, INBORN;

EID: 79951693205     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30289     Document Type: Article

References (73)

1. Allan JD, Cusworth DC, Dent CE, Wilson VK. 1958. A disease, probably hereditary characterised by severe mental deficiency and a constant gross abnormality of aminoacid metabolism. Lancet 1: 182-187.
2. 2001. Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr 138: S1-S5.
3. Aoyagi K. 2003. Inhibition of arginine synthesis by urea: A mechanism for arginine deficiency in renal failure which leads to increased hydroxyl radical generation. Mol Cell Biochem 244: 11-15.
4. Aoyagi K, Shahrzad S, Iida S, Tomida C, Hirayama A, Nagase S, Takemura K, Koyama A, Ohba S, Narita M. 2001. Role of nitric oxide in the synthesis of guanidinosuccinic acid, an activator of the N-methyl-D-aspartate receptor. Kidney Int Suppl 78: S93-S96.
5. Arias A, Garcia-Villoria J, Ribes A. 2004. Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects. Mol Genet Metab 82: 220-223.
6. Batshaw ML, Brusilow S, et al. 1982. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med 306: 1387-1392.
7. Batshaw ML, MacArthur RB, et al. 2001. Alternative pathway therapy for urea cycle disorders: Twenty years later. Journal of Pediatrics 138: S46-S54.
8. Billmeier GJ Jr, Molinary SV, Wilroy RS Jr, Duenas DA, Brannon ME. 1974. Argininosuccinic aciduria: Investigation of an affected family. J Pediatr 84: 858-859.
9. Brosnan ME, Brosnan JT. 2007. Orotic acid excretion and arginine metabolism. J Nutr 137: 1656S-1661S.
10. Brunetti-Pierri N, Erez A, Shchelochkov O, Craigen W, Lee B. 2009. Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency? Mol Genet Metab 98: 195-197.
11. Brusilow SW, Horwich AL. 2001. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill.
12. Brusilow SW, Horwich AL. 2009. Online Metabolic and Molecular Basis of Inherited Disease.
13. Brusilow SW, Maestri NE. 1996. Urea cycle disorders: Diagnosis, pathophysiology, and therapy. Adv Pediatr 43: 127-170.
14. Brusilow S, Tinker J, Batshaw ML. 1980. Amino acid acylation: A mechanism of nitrogen excretion in inborn errors of urea synthesis. Science 207: 659-661.
15. Coryell ME, Hall WK, Thevaos TG, Welter DA, Gatz AJ, Horton BF, Sisson BD, Looper JW Jr, Farrow RT. 1964. A familial study of a human enzyme defect, argininosuccinic aciduria. Biochem Biophys Res Commun 14: 307-312.
16. Cui R, Iso H, Pi J, Kumagai Y, Yamagishi K, Tanigawa T, Shimamoto T. 2006. Metabolic syndrome and urinary cGMP excretion in general population. Atherosclerosis 190: 423-428.
17. D'Hooge R, Pei YQ, Marescau B, De Deyn PP. 1992. Convulsive action and toxicity of uremic guanidino compounds: Behavioral assessment and relation to brain concentration in adult mice. J Neurol Sci 112: 96-105.
18. Donn SM, Thoene JG. 1985. Prospective prevention of neonatal hyperammonaemia in argininosuccinic acidura by arginine therapy. J Inherit Metab Dis 8: 18-20.
19. Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. 2007. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. N Engl J Med 356: 2282-2292.
20. Fichtel JC, Richards JA, Davis LS. 2007. Trichorrhexis nodosa secondary to argininosuccinicaciduria. Pediatr Dermatol 24: 25-27.
21. Ficicioglu C, Mandell R, Shih VE. 2009. Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab 98: 273-277.
22. Gerrits GP, Gabreels FJ, Monnens LA, De Abreu RA, van Raaij-Selten B, Niezen-Koning KE, Trijbels JM. 1993. Argininosuccinic aciduria: Clinical and biochemical findings in three children with the late onset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. Neuropediatrics 24: 15-18.
23. Haberle J, Koch HG. 2004. Genetic approach to prenatal diagnosis in urea cycle defects. Prenat Diagn 24: 378-383.
24. Halliwell B. 1992. Reactive oxygen species and the central nervous system. J Neurochem 59: 1609-1623.
25. Kleijer WJ, Garritsen VH, et al. 2002. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families. J Inherit Metab Dis 25: 399-410.
26. Kleijer WJ, Garritsen VH, et al. 2006. Prenatal diagnosis of citrullinemia and argininosuccinic aciduria: evidence for a transmission ratio distortion in citrullinemia. Prenat Diagn 26: 242-247.
27. Kvedar JC, Baden HP. et al. 1991. Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. Am J Med Genet 40: 211-213.
28. LaBrecque DR, Latham PS, Riely CA, Hsia YE, Klatskin G. 1979. Heritable urea cycle enzyme deficiency-liver disease in 16 patients. J Pediatr 94: 580-587.
29. Lee B, Goss J. 2001. Long-term correction of urea cycle disorders. Journal of Pediatrics 138: S62-S71.
30. Lee HJ, Chiou SH, Chang GG. 1992. Biochemical characterization and kinetic analysis of duck delta-crystallin with endogenous argininosuccinate lyase activity. Biochem J 283: 597-603.
31. Lewis PD, Miller AL. 1970. Argininosuccinic aciduria. Case report with neuropathological findings. Brain 93: 413-422.
32. Linnebank M, Tschiedel E, Haberle J, Linnebank A, Willenbring H, Kleijer WJ, Koch HG. 2002. Argininosuccinate lyase (ASL) deficiency: Mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet 111: 350-359.
33. Maestri NE, Hauser ER, et al. 1991. Prospective treatment of urea cycle disorders. J Pediatr 119: 923-928.
34. Maestri NE, Clissold DB, et al. 1995. Long-term survival of patients with argininosuccinate synthetase deficiency. J Pediatr 127: 929-935.
35. Maestri NE, Clissold D, Brusilow SW. 1999. Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis. J Pediatr 134: 268-272.
36. Malyshev IY, Shnyra A. 2003. Controlled modulation of inflammatory, stress and apoptotic responses in macrophages. Curr Drug Targets Immune Endocr Metabol Disord 3: 1-22.
37. Mandell R, Packman S, et al. 1996. Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. Prenat Diagn 16: 419-424.
38. Marble M, McGoey RR, et al. 2008. Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: metabolic follow-up. J Pediatr Gastroenterol Nutr 46: 453-456.
39. Mardach MR, Roe K., et al. 1999. Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency. J Inherit Metab Dis 22: 102-106.
40. Mercimek-Mahmutoglu S, Moeslinger D, Haberle J, Engel K, Herle M, Strobl MW, Scheibenreiter S, Muehl A, Stockler-Ipsiroglu S. 2010. Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. Mol Genet Metab 100: 24-28.
41. Mori M, Gotoh T. 2004. Arginine metabolic enzymes, nitric oxide and infection. J Nutr 134: 2820S-2825S.
42. Mori T, Nagai K, Mori M, Nagao M, Imamura M, Iijima M, Kobayashi K. 2002. Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. Pediatr Dev Pathol 5: 597-601.
43. 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 Engl J Med 310: 1500-1505.
44. Naseem KM. 2005. The role of nitric oxide in cardiovascular diseases. Mol Aspects Med 26: 33-65.
45. Newnham T, Hardikar W, et al. 2008. Liver transplantation for argininosuccinic aciduria: clinical, biochemical, and metabolic outcome. Liver Transpl 14: 41-45.
46. O'Brien WE, McInnes R, Kalumuck K, Adcock M. 1986. Cloning and sequence analysis of cDNA for human argininosuccinate lyase. Proc Natl Acad Sci USA 83: 7211-7215.
47. Parsons HG, Scott RB, Pinto A, Carter RJ, Snyder FF. 1987. Argininosuccinic aciduria: Long-term treatment with arginine. J Inherit Metab Dis 10: 152-161.
48. Piatigorsky J, Wistow GJ. 1989. Enzyme/crystallins: Gene sharing as an evolutionary strategy. Cell 57: 197-199.
49. Pignitter M, Gorren AC, Nedeianu S, Schmidt K, Mayer B. 2006. Inefficient spin trapping of superoxide in the presence of nitric-oxide: Implications for studies on nitric-oxide synthase uncoupling. Free Radic Biol Med 41: 455-463.
50. Pijpers L, Kleijer WJ, et al. 1990. Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria: a case report. Am J Med Genet 36: 449-450.
51. Reid L, Perreault E., et al. 2009. Experience with the treatment of argininosuccinic aciduria during pregnancy. J Inherit Metab Dis.
52. Reid Sutton V, Pan Y, Davis EC, Craigen WJ. 2003. A mouse model of argininosuccinic aciduria: Biochemical characterization. Mol Genet Metab 78: 11-16.
53. Robberecht E, Maesen S, et al. 2006. Successful liver transplantation for argininosuccinate lyase deficiency (ASLD). J Inherit Metab Dis 29: 184-185.
54. Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. 1999. Liver transplantation in urea cycle disorders. Eur J Pediatr 158: S55-S59.
55. Scaglia F, Brunetti-Pierri N, Kleppe S, Marini J, Carter S, Garlick P, Jahoor F, O'Brien W, Lee B. 2004. Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism. J Nutr 134: 2775S-2782S, discussion 2796S-2797S.
56. Schulze A, Ebinger F, Rating D, Mayatepek E. 2001. Improving treatment of guanidinoacetate methyltransferase deficiency: Reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab 74: 413-419.
57. Shih VE, Moser LJHW, 1969. Argininosuccinase deficiency in fibroblasts cultured from patients with argininosuccinic aciduria. Biochem Genet 3: 81.
58. Sijens PE, Reijngoud DJ, Soorani-Lunsing RJ, Oudkerk M, van Spronsen FJ. 2006. Cerebral 1H MR spectroscopy showing elevation of brain guanidinoacetate in argininosuccinate lyase deficiency. Mol Genet Metab 88: 100-102.
59. Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, Cesaro L, Basso G, Burlina AB. 2007. Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Hum Mutat 28: 694-702.
60. Trevisson E, Burlina A, Doimo M, Pertegato V, Casarin A, Cesaro L, Navas P, Basso G, Sartori G, Salviati L. 2009. Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. J Biol Chem 284: 28926-28934.
61. Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML. 2008. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol Genet Metab 94: 397-402.
62. Turner MA, Simpson A, McInnes RR, Howell PL. 1997. Human argininosuccinate lyase: A structural basis for intragenic complementation. Proc Natl Acad Sci USA 94: 9063-9068.
63. Vallee F, Turner MA, Lindley PL, Howell PL. 1999. Crystal structure of an inactive duck delta II crystallin mutant with bound argininosuccinate. Biochemistry 38: 2425-2434.
64. van Spronsen FJ, Reijngoud DJ, Verhoeven NM, Soorani-Lunsing RJ, Jakobs C, Sijens PE. 2006. High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment? Mol Genet Metab 89: 274-276.
65. Vukosavljevic N, Jaron D, Barbee KA, Buerk DG. 2006. Quantifying the L-arginine paradox in vivo. Microvasc Res 71: 48-54.
66. Widhalm K, Koch S, Scheibenreiter S, Knoll E, Colombo JP, Bachmann C, Thalhammer O. 1992. Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: No impairment of intellectual and psychomotor development during therapy. Pediatrics 89: 1182-1184.
67. Windmueller HG, Spaeth AE. 1981. Source and fate of circulating citrulline. Am J Physiol 241: E473-E480.
68. Wistow G, Piatigorsky J. 1987. Recruitment of enzymes as lens structural proteins. Science 236: 1554-1556.
69. Worthington S, Christodoulou J, et al. 1996. Pregnancy and argininosuccinic aciduria. J Inherit Metab Dis 19: 621-623.
70. Wu GY, Morris SM. 1998. Arginine metabolism: Nitric oxide and beyond. Biochem J 336: 1-17.
71. Yeh LS, Elzanowski A, Hunt LT, Barker WC. 1988. Homology of delta crystallin and argininosuccinate lyase. Comp Biochem Physiol B 89: 433-4337.
72. Yu B, Howell PL. 2000. Intragenic complementation and the structure and function of argininosuccinate lyase. Cell Mol Life Sci 57: 1637-1651.
73. Zimmermann A, Bachmann C, Baumgartner R. 1986. Severe liver fibrosis in argininosuccinic aciduria. Arch Pathol Lab Med 110: 136-140.