Considerations in the difficult-to-manage urea cycle disorder patient

Critical Care Clinics

Volumn 21, Issue 4 SUPPL., 2005, Pages

  Lee, Brendan ^a   Singh, Rani H ^b   Rhead, William J ^c   King, Lisa Sniderman ^d   Smith, Wendy ^e,f   Summar, Marshall L ^g  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MEDICAL COLLEGE OF WISCONSIN   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e Barbara Bush Children's Hospital   (United States)

^f Maine Pediatric Specialty Group   (United States)

^g VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMMONIA; ARYLBUTYRIC ACID DERIVATIVE; BRANCHED CHAIN AMINO ACID; CARNITINE; CITRULLINE; ORNITHINE CARBAMOYLTRANSFERASE;

AMMONIA BLOOD LEVEL; ANAMNESIS; CASE REPORT; CLINICAL PROTOCOL; CONFERENCE PAPER; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; FEEDING DISORDER; FEMALE; HUMAN; HYPERAMMONEMIA; INBORN ERROR OF METABOLISM; LABORATORY TEST; LIVER GRAFT; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN RESTRICTION; UREA CYCLE; UREA CYCLE DISORDER;

AMINO ACID METABOLISM, INBORN ERRORS; HUMANS; HYPERAMMONEMIA; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; PHENOTYPE; UREA;

EID: 26844482679     PISSN: 07490704     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ccc.2005.05.001     Document Type: Conference Paper

References (30)

1. C. Bachmann Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation Eur J Pediatr 162 6 2003 410 416
2. N.E. Maestri, D. Clissold, and S.W. Brusilow Neonatal onset ornithine transcarbamylase deficiency: a retrospective analysis J Pediatr 134 3 1999 268 272
3. T. Uchino, F. Endo, and I. Matsuda Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan J Inherit Metab Dis 21 Suppl 1 1998 151 159
4. F. Scaglia, Q. Zheng, and W.E. O'Brien An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency Pediatrics 109 1 2002 150 152
5. B. Lee, H. Yu, and F. Jahoor In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle Proc Natl Acad Sci USA 97 14 2000 8021 8026
6. B. Wilcken Problems in the management of urea cycle disorders Mol Genet Metab 81 Suppl 2004 S86 S91
7. 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
8. R.D. Steiner, and S.D. Cederbaum Laboratory evaluation of urea cycle disorders J Pediatr 138 Suppl 1 2001 S21 S29
9. P.J. Reeds, and P.J. Garlick Protein and amino acid requirements and the composition of complementary foods J Nutr 133 9 2003 2953S 2961S
10. F. Gidden, and A. Shenkin Laboratory support of the clinical nutrition service Clin Chem Lab Med 38 8 2000 693 714
11. C. Bachmann Mechanisms of hyperammonemia Clin Chem Lab Med 40 7 2002 653 662
12. R.F. Butterworth Glutamate transporter and receptor function in disorders of ammonia metabolism Ment Retard Dev Disabil Res Rev 7 4 2001 276 279
13. C.G. Choi, and H.W. Yoo Localized proton MR spectroscopy in infants with urea cycle defect AJNR Am J Neuroradiol 22 5 2001 834 837
14. S.D. Cederbaum, H. Yu, and W.W. Grody Arginases I and II: do their functions overlap? Mol Genet Metab 81 Suppl 1 2004 S38 S44
15. F. Scaglia, N. Brunetti-Pierri, and S. Kleppe Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism J Nutr 134 Suppl 10 2004 S2775 S2797
16. A. Zimmermann, C. Bachmann, and R. Baumgartner Severe liver fibrosis in argininosuccinic aciduria Arch Pathol Lab Med 110 2 1986 136 140
17. F. Scaglia, J. Marini, and J. Rosenberger Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers Am J Clin Nutr 78 4 2003 749 755
18. Y. Shimomura, T. Murakami, and N. Nakai Exercise promotes BCAA catabolism: effects of BCAA supplementation on skeletal muscle during exercise J Nutr 134 Suppl 6 2004 1583S 1587S
19. C. Obled, I. Papet, and D. Breuille Metabolic bases of amino acid requirements in acute diseases Curr Opin Clin Nutr Metab Care 5 2 2002 189 197
20. F. Scaglia, S. Carter, and W.E. O'Brien Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients Mol Genet Metab 81 Suppl 1 2004 S79 S85
21. R.R. Wolfe Regulation of skeletal muscle protein metabolism in catabolic states Curr Opin Clin Nutr Metab Care 8 1 2005 61 65
22. L. Caldovic, H. Morizono, and Y. Daikhin Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate J Pediatr 145 4 2004 552 554
23. J.V. Leonard The nutritional management of urea cycle disorders J Pediatr 138 Suppl 1 2001 S40 S45
24. T. Kasumov, L.L. Brunengraber, and B. Comte New secondary metabolites of phenylbutyrate in humans and rats Drug Metab Dispos 32 1 2004 10 19
25. A.K. Iafolla, D.S. Gale, and C.R. Roe Citrate therapy in argininosuccinate lyase deficiency J Pediatr 117 1990 102 105
26. C. Renner, A.C. Sewell, and K. Bervoets Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year-old patient under total parenteral nutrition Eur J Pediatr 154 11 1995 909 914
27. A.J. Wagenmakers Protein and amino acid metabolism in human muscle Adv Exp Med Biol 441 1998 307 319
28. M.G. Buse, and S.S. Reid Leucine. A possible regulator of protein turnover in muscle J Clin Invest 56 5 1975 1250 1261
29. C.J. Lynch, B. Halle, and H. Fujii Potential role of leucine metabolism in the leucine-signaling pathway involving mTOR Am J Physiol Endocrinol Metab 285 4 2003 E854 E863
30. A.B. Burlina, V. Ferrari, and C. Dionisi-Vici Allopurinol challenge test in children J Inherit Metab Dis 15 1992 707 712