Hereditary urea cycle diseases in Finland

Acta Paediatrica, International Journal of Paediatrics

Volumn 97, Issue 10, 2008, Pages 1412-1419

  Keskinen, Päivi ^a   Siitonen, Anna ^a   Salo, Matti ^a  

^a TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Finland; Survey; Urea cycle disorders

Indexed keywords

ARGININE; ARYLBUTYRIC ACID DERIVATIVE; BENZOIC ACID; CITRULLINE;

ARGININOSUCCINIC ACID LYASE DEFICIENCY; ARTICLE; CARBAMOYL PHOSPHATE SYNTHASE DEFICIENCY; CHILD; CHILD DEVELOPMENT; CHILD GROWTH; CITRULLINEMIA; DISEASE COURSE; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; FINLAND; FOLLOW UP; HEALTH SURVEY; HUMAN; HYPERAMMONEMIA; INCIDENCE; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; MORTALITY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN RESTRICTION; TREATMENT OUTCOME; UREA CYCLE DISORDER;

ADOLESCENT; ADULT; AMINO ACID METABOLISM, INBORN ERRORS; ARGININOSUCCINATE LYASE; CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY DISEASE; CHILD; CHILD, PRESCHOOL; CITRULLINEMIA; FEMALE; FINLAND; HUMANS; HYPERAMMONEMIA; HYPERARGININEMIA; INCIDENCE; INFANT; INFANT, NEWBORN; MALE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; UREA; YOUNG ADULT;

EID: 51349141861     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.00923.x     Document Type: Article

References (20)

1. Salo M, Airaksinen E. Urea cycle disorders (Ureakierron hairiot). In : Sillanpää M, Airaksinen E, editors. Child neurology (Lastenneurologia). pp. 230 40. Helsinki : Duodecim, 1996.
2. Siitonen A, Salo MK. Hereditary urea cycle diseases in Finland (Perinnölliset ureakiertotaudit Suomessa. An article in Finnish.). Duodecim 2004 120 : 61 70.
3. Lågas PA, Ruokonen A. Late onset argininosuccinic aciduria in a paranoid retardate. Biol Psychiatry 1991 30 : 1229 32.
4. von Wendt L, Similä S, Ruokonen A, Puukka M. Argininosuccinic aciduria in a Finnish woman presenting with psychosis and mental retardation. Ann Clin Res 1982 14 : 145 7.
5. Schultz RE, Salo MK. Under recognition of late onset ornithine transcarbamylase deficiency. Arch Dis Child 2000 82 : 390 1.
6. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999 281 : 249 54.
7. Dionisi-Vici C, Rizzo C, Burlina AB, Caruso U, Sabetta G, Uziel G, et al., for the Italian Metabolic Network Contributing Investigators. Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey. J Pediatr 2002 140 : 321 7.
8. Sanderson S, Green A, Preece MA, Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Arch Dis Child 2006 91 : 896 9.
9. Brusilow SW, Maestri NE. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv Pediatr 1996 43 : 127 70.
10. Trevisson E, Salviati L, Baldoin MC, Toldo I, Casarin A, Sacconi S, et al. Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene. Human Mutat 2007 28 : 694 702.
11. Linnebank M, Tschiedel E, Häberle J, Linnebank A, Willenbring H, Kleijer WJ, et al. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum Genet 2002 111 : 350 9.
12. Al-Sayed M, Alahmed S, Alsmadi O, Khalil H, Rashed MS. Identification of a common novel mutation in Saudi patients with arginiosuccinic aciduria. J Inherit Metab Dis 2005 28 : 877 83.
13. Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inherit Metab Dis 1998 21 (Suppl 1 40 58.
14. Maestri NE, Clissord D, Brusilow SW. Neonatal onset ornithine transcarbamylase deficiency: a retrospective analysis. J Pediatr 1999 134 : 268 72.
15. Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr 2003 162 : 410 6.
16. Nassogne MC, Héron B, Touati G, Rabier D, Saudubray JM. Urea cycle defects: management and outcome. J Inherit Metab Dis 2005 28 : 407 14.
17. Nicolaides P, Liebsch D, Dale N, Leonard J, Surtees R. Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch Dis Child 2002 86 : 54 6.
18. Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. New Engl J Med 2007 356 : 2282 92.
19. Aoyagi K, Akiyama K, Shahrzad S, Tomida C, Hirayama A, Nagase S, et al. Formation of guanidinosuccinic acid, a stable nitric oxide mimic, from argininosuccinic acid and nitric oxide-derived free radicals. Free Radic Res 1999 31 : 59 65.
20. Simell O, Perheentupa J, Rapola J, Visakorpi JK, Eskelin LE. Lysinuric protein intolerance. Am J Med 1975 59 : 229 40.