Arginase deficiency with new phenotype and a novel mutation: Contemporary summary

Pediatric Neurology

Volumn 47, Issue 4, 2012, Pages 263-269

  Tsang, Jane Pui Ki ^a   Poon, Wai Lun ^a,b   Luk, Ho Ming ^c   Fung, Cheuk Wing ^c   Ching, Chor Kwan ^d   Mak, Chloe Miu ^d,e   Lam, Ching Wan ^f   Siu, Tak Shing ^e   Tam, Sidney ^e   Wong, Virginia C N ^c  

^a TUEN MUN HOSPITAL   (Hong Kong)

^b QUEEN ELIZABETH HOSPITAL   (Hong Kong)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

^d PRINCESS MARGARET HOSPITAL   (Hong Kong)

^e QUEEN MARY HOSPITAL   (Hong Kong)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; AMMONIA; ASPARTATE AMINOTRANSFERASE;

ADULT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALKALINE PHOSPHATASE BLOOD LEVEL; AMMONIA BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BRAIN ATROPHY; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CHINESE; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; DYSTONIA; EPILEPSY; FEMALE; GENE DELETION; GENE MUTATION; GROWTH DISORDER; HUMAN; HYPERARGININEMIA; MEDICAL HISTORY; PRIORITY JOURNAL; SPASTICITY;

ANTICONVULSANTS; ARGINASE; BASE SEQUENCE; CARCINOMA, HEPATOCELLULAR; CEREBRAL PALSY; CODON, NONSENSE; COMBINED MODALITY THERAPY; DELAYED DIAGNOSIS; DEMENTIA; DIAGNOSTIC ERRORS; DISEASE PROGRESSION; EPILEPSY; FATAL OUTCOME; FEMALE; HUMANS; HYPERARGININEMIA; LIVER; LIVER CIRRHOSIS; LIVER NEOPLASMS; MOLECULAR SEQUENCE DATA; PALLIATIVE CARE; PHENOTYPE; SEQUENCE DELETION; SODIUM BENZOATE; VALPROIC ACID; YOUNG ADULT;

EID: 84866088490     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.06.012     Document Type: Article

References (34)

1. S. Cederbaum, and E.A. Crombez Arginase deficiency: GeneReviews [internet] 1993 University of Washington Seattle, WA Available from: http://www.ncbi.nlm.nih.gov/books/NBK1159/
2. E.A. Crombez, and S.D. Cederbaum Hyperargininemia due to liver arginase deficiency Mol Genet Metab 84 2005 243 251
3. A.C. Braga, L. Vilarinho, E. Ferreira, and H. Rocha Hyperargininemia presenting as persistent neonatal jaundice and hepatic cirrhosis J Pediatr Gastroenterol Nutr 24 1997 218 221
4. A. Peralta Serrano Argininuria, convulsions and oligophrenia: A new inborn error of metabolism? Rev Clin Esp 97 1965 176 184
5. Y. Haraguchi, M. Takiguchi, Y. Amaya, S. Kawamoto, I. Matsuda, and M. Mori Molecular cloning and nucleotide sequence of cDNA for human liver arginase Proc Natl Acad Sci USA 84 1987 412 415
6. B. Marsecau, P.P. DeDeyn, and A.I. Qureski Guanidino compounds in hyperargininaemia P.P. DeDeyn, Guanidino compounds in biology and medicine 1992 Libbey London 363 371
7. S.D. Cederbaum, K.N. Shaw, E.B. Spector, M.A. Verity, P.J. Snodgrass, and G.I. Sugarman Hyperargininemia with arginase deficiency Pediatr Res 13 1979 827 833
8. S.D. Cederbaum, H. Yu, W.W. Grody, R.M. Kern, P. Yoo, and R.K. Iyer Arginases I and II: Do their functions overlap? Mol Genet Metab 81 Suppl. 1 2004 S38 S44
9. T. Uchino, S.E. Snyderman, and M. Lambert Molecular basis of phenotypic variation in patients with argininemia Hum Genet 96 1995 255 260
10. D.E. Ash, L.R. Scolnick, Z.F. Kanyo, J.G. Vockley, S.D. Cederbaum, and D.W. Christianson Molecular basis of hyperargininemia: Structure-function consequences of mutations in human liver arginase Mol Genet Metab 64 1998 243 249
11. S.W. Brusilow, and A.L. Horwich Urea cycle enzymes C.R. Scriver, W.S. Sly, D. Valle, The metabolic and molecular basis of inherited disease 1995 McGraw Hill New York 1187 1232
12. C. Bachmann Urea cycle disorders J.S.J. Fernandes, K. Tade, Inborn metabolic diseases diagnosis and treatment 1990 Springer-Verlag New York 211 228
13. A.L. Gropman, M. Summar, and J.V. Leonard Neurological implications of urea cycle disorders J Inherit Metab Dis 30 2007 865 879
14. A.N. Prasad, J.C. Breen, M.G. Ampola, and N.P. Rosman Argininemia: A treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: Case reports and literature review J Child Neurol 12 1997 301 309
15. A. Garcia-Cazorla, N.I. Wolf, and M. Serrano Inborn errors of metabolism and motor disturbances in children J Inherit Metab Dis 32 2009 618 629
16. R.H. Boger, and S.M. Bode-Boger The clinical pharmacology of L-arginine Annu Rev Pharmacol Toxicol 41 2001 79 99
17. J. Loscalzo An experiment of nature: Genetic L-arginine deficiency and NO insufficiency J Clin Invest 108 2001 663 664
18. M.S. Oldham, J.W. VanMeter, K.F. Shattuck, S.D. Cederbaum, and A.L. Gropman Diffusion tensor imaging in arginase deficiency reveals damage to corticospinal tracts Pediatr Neurol 42 2010 49 52
19. A. Jorda, V. Rubio, M. Portoles, J. Vilas, and J. Garcia-Pino A new case of arginase deficiency in a Spanish male J Inherit Metab Dis 9 1986 393 397
20. D.R. LaBrecque, P.S. Latham, C.A. Riely, Y.E. Hsia, and G. Klatskin Heritable urea cycle enzyme deficiency-liver disease in 16 patients J Pediatr 94 1979 580 587
21. T. Mori, K. Nagai, and M. Mori Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency Pediatr Dev Pathol 5 2002 597 601
22. W.W. Grody, R.M. Kern, and D. Klein Arginase deficiency manifesting delayed clinical sequelae and induction of a kidney arginase isozyme Hum Genet 91 1993 1 5
23. A. Chrzanowska, B. Gajewska, and A. Baranczyk-Kuzma Arginase isoenzymes in human cirrhotic liver Acta Biochim Pol 56 2009 465 469
24. H.J. Zimmerman, and K.G. Ishak Valproate-induced hepatic injury: Analyses of 23 fatal cases Hepatology 2 1982 591 597
25. G. Fattovich, T. Stroffolini, I. Zagni, and F. Donato Hepatocellular carcinoma in cirrhosis: Incidence and risk factors Gastroenterology 127 Suppl. 1 2004 S35 S50
26. N.N. Nissen, and P. Martin Hepatocellular carcinoma: The high-risk patient J Clin Gastroenterol 35 Suppl. 2 2002 S79 S85
27. J. Bruix, and M. Sherman Management of hepatocellular carcinoma: An update Hepatology 53 2011 1020 1022
28. M.C. Nassogne, B. Heron, G. Touati, D. Rabier, and J.M. Saudubray Urea cycle defects: Management and outcome J Inherit Metab Dis 28 2005 407 414
29. W. Smith, P.S. Kishnani, and B. Lee Urea cycle disorders: Clinical presentation outside the newborn period Crit Care Clin 21 Suppl. 4 2005 S9 S17
30. M. Summar, and M. Tuchman Proceedings of a consensus conference for the management of patients with urea cycle disorders J Pediatr 138 Suppl. 1 2001 S6 S10
31. G.T. Berry, and R.D. Steiner Long-term management of patients with urea cycle disorders J Pediatr 138 Suppl. 1 2001 S56 S61
32. G. Sebastiani Non-invasive assessment of liver fibrosis in chronic liver diseases: Implementation in clinical practice and decisional algorithms World J Gastroenterol 15 2009 2190 2203
33. D. Schuppan, and N.H. Afdhal Liver cirrhosis Lancet 371 2008 838 851
34. M. Ziol, A. Handra-Luca, and A. Kettaneh Noninvasive assessment of liver fibrosis by measurement of stiffness in patients with chronic hepatitis C Hepatology 41 2005 48 54