Inherited hyperammonaemias

Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases

Volumn , Issue , 2006, Pages 117-127

  Leonard, James ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 42549172661     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/3-540-28962-3_13     Document Type: Chapter

References (18)

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2. Brusilow SW (1991) Treatment of urea cycle disorders In: Desnick RJ (ed) Treatment of genetic diseases. Churchill Livingstone, New York, pp 79-94
3. Brusilow SW, Batshaw ML (1979) Arginine therapy of argininosuccinase deficiency. Lancet 1:124-127
4. DeweyK, BeatonG, FjeldC,Lönnerdal B, Reeds P (1996) Protein requirements of infants and children. Eur J Clin Nutrit (Suppl 1) 50:119-150
5. Dixon MA, Leonard JV (1992) Intercurrent illness in inborn errors of intermediary metabolism. Arch Dis Child 67:1387-1391
6. FAO/WHO/UNU Expert Committee (1985) Energy and protein requirements. World Health Organisation Technical Report Series 724. WHO, Geneva
7. Fernandes J, Saudubray J-M, Van den Berghe G (2000) Inborn metabolic diseases, 3rd edn. Springer, Berlin
8. Iafolla AK, Gale DS, Roe CR (1990) Citrate therapy in argininosuccinate lyase deficiency. J Pediatr 117:102-105
9. Kasumov T, Brunengraber LL, Comte B, Puchowicz MA, Jobbins K, Thomas K, David F, Kinman R,Wehrli S, DahmsW, Kerr D, Nissim I, BrunengraberH(2004) New secondary metabolites of phenylbutyrate in humans and rats. Drug Metab Dispos 32:10-9
10. Maestri NE,McGowanKD, BrusilowSW(1992) Plasma glutamine concentration: a guide to the management of urea cycle disorders. J Pediatr 121:259-261
11. Mayatapek E, Kurczynski TW, Hoppel CL, Gunning WT (1991) Carnitine deficiency associated with ornithine transcarbamylase deficiency. Pediatr Neurol 7:196-199
12. Mori T, Tsuchiyama A, Nagai K, Nagao M, Oyangi K, Tsuuawa S (1990) A case of carbamylphosphate synthetase deficiency associated with secondary carnitine deficiency. Eur J Pediatr 149:272-274
13. Morris AAM, Leonard JV (1997) Early recognition of decompensation of metabolic disorders. Arch Dis Childh 76:555-556
14. Renner C, Sewell AC, Bervoets K, Forster H, BohlesH(1995) Sodium citrate supplementation in inborn argininosuccinate lyase deficiency: a study in a 5-year old patient under total parenteral nutrition. Eur J Pediatr 154:909-914
15. Scriver CR, Beaudet AL, Sly AL, Valle DW (eds) (1995) The metabolic and molecular bases of inherited disease. McGraw Hill, New York
16. Tuchman M, YudcoffM(1999) Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonaemia. Mol Genet Metab 66:10-15
17. Urea Cycle Disorders Conference Group (2001) Consensus statement from a conference for the management of patients with urea cycle disorders. J Pediatr (Suppl 1) 138:1-80
18. Walser M, BatshawM, Sherwood G, Robinson B, BrusilowS (1977)Nitrogen metabolism in neonatal citrullinaemia. Clin Sci Mol Med 53:173-181