Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ

Journal of Pediatrics

Volumn 162, Issue 2, 2013, Pages

  Ah Mew, Nicholas ^a,b   Krivitzky, Lauren ^c   McCarter, Robert ^a,b   Batshaw, Mark ^a,b   Tuchman, Mendel ^a,b  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

ALD; Argininosuccinate lyase deficiency; Argininosuccinate synthetase deficiency; ASD; Carbamyl phosphate synthetase 1 deficiency; CPSD; Developmental quotient; DQ; FSIQ; Full scale intelligence quotient; Ornithine transcarbamylase; Ornithine transcarbamylase deficiency; OTC; OTCD; UCD; UCDC; Urea cycle disorder; Urea Cycle Disorders Consortium

Indexed keywords

ALANINE AMINOTRANSFERASE; AMMONIA; ARGININOSUCCINATE LYASE; ARGININOSUCCINATE SYNTHASE; ASPARTATE AMINOTRANSFERASE; CARBAMOYL PHOSPHATE SYNTHASE; ORNITHINE CARBAMOYLTRANSFERASE; UREA;

ALANINE AMINOTRANSFERASE BLOOD LEVEL; AMMONIA BLOOD LEVEL; ARGININOSUCCINIC ACIDURIA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; BRAIN DEVELOPMENT; CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY; CHILD; CITRULLINEMIA; COGNITIVE DEFECT; DISEASE COURSE; DISEASE SEVERITY; DNA DETERMINATION; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENOTYPE; HOSPITAL ADMISSION; HOSPITAL DISCHARGE; HOSPITALIZATION; HUMAN; HYPERAMMONEMIA; INTELLIGENCE QUOTIENT; LENGTH OF STAY; LIVER TRANSPLANTATION; MAJOR CLINICAL STUDY; MALE; MORTALITY; NERVE CELL DIFFERENTIATION; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; UREA BLOOD LEVEL;

EID: 84872291538     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2012.06.065     Document Type: Article

References (22)

1. M. Summar, and M. Tuchman Proceedings of a consensus conference for the management of patients with urea cycle disorders J Pediatr 138 2001 S6 S10
2. M.L. Batshaw Hyperammonemia Curr Probl Pediatr 14 1984 1 69
3. M. Msall, M.L. Batshaw, R. Suss, S.W. Brusilow, and E.D. Mellits Neurologic outcome in children with inborn errors of urea synthesis: outcome of urea-cycle enzymopathies N Engl J Med 310 1984 1500 1505
4. N.E. Maestri, E.R. Hauser, D. Bartholomew, and S.W. Brusilow Prospective treatment of urea cycle disorders J Pediatr 119 1991 923 928
5. S.C. Nagamani, A. Erez, and B. Lee Argininosuccinate lyase deficiency Genet Med 14 2012 501 507
6. S.D. Cederbaum, K.N. Shaw, M. Valente, and M.E. Cotton Argininosuccinic aciduria Am J Ment Defic 77 1973 395 404
7. J. Seminara, M. Tuchman, L. Krivitzky, J. Krischer, H.S. Lee, and C. Lemons Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium Mol Genet Metab 100 Suppl 1 2010 S97 105
8. M. Tuchman, B. Lee, U. Lichter-Konecki, M.L. Summar, M. Yudkoff, and S.D. Cederbaum Cross-sectional multicenter study of patients with urea cycle disorders in the United States Mol Genet Metab 94 2008 397 402
9. L. Krivitzky, T. Babikian, H.S. Lee, N.H. Thomas, K.L. Burk-Paull, and M.L. Batshaw Intellectual, adaptive, and behavioral functioning in children with urea cycle disorders Pediatr Res 66 2009 96 101
10. M. Linnebank, E. Tschiedel, J. Haberle, A. Linnebank, H. Willenbring, and W.J. Kleijer Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene Hum Genet 111 2002 350 359
11. M. Tuchman, N. Jaleel, H. Morizono, L. Sheehy, and M.G. Lynch Mutations and polymorphisms in the human ornithine transcarbamylase gene Hum Mutat 19 2002 93 107
12. E. Trevisson, L. Salviati, M.C. Baldoin, I. Toldo, A. Casarin, and S. Sacconi Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene Hum Mutat 28 2007 694 702
13. S. Yamaguchi, L.L. Brailey, H. Morizono, A.E. Bale, and M. Tuchman Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene Hum Mutat 27 2006 626 632
14. K. Engel, W. Hohne, and J. Haberle Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene Hum Mutat 30 2009 300 307
15. J. Haberle, O.A. Shchelochkov, J. Wang, P. Katsonis, L. Hall, and S. Reiss Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations Hum Mutat 32 2011 579 589
16. P.D. Stenson, M. Mort, E.V. Ball, K. Howells, A.D. Phillips, and N.S. Thomas The Human Gene Mutation Database: 2008 update Genome Med 1 2009 13
17. I.F. Fokkema, P.E. Taschner, G.C. Schaafsma, J. Celli, J.F. Laros, and J.T. den Dunnen LOVD v.2.0: the next generation in gene variant databases Hum Mutat 32 2011 557 563
18. J.V. Leonard The nutritional management of urea cycle disorders J Pediatr 138 2001 S40 S44
19. B. Lee, R.H. Singh, W.J. Rhead, L. Sniderman King, W. Smith, and M.L. Summar Considerations in the difficult-to-manage urea cycle disorder patient Crit Care Clin 21 2005 S19 S25
20. B.A. McCullough, M. Yudkoff, M.L. Batshaw, J.M. Wilson, S.E. Raper, and M. Tuchman Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype Am J Med Genet 93 2000 313 319
21. A.L. Gropman, and M.L. Batshaw Cognitive outcome in urea cycle disorders Mol Genet Metab 81 Suppl 1 2004 S58 S62
22. C. Bachmann Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation Eur J Pediatr 162 2003 410 416