Screening for tyrosinaemia type I.
作者： A. C. Hutchesson , S. K. Hall , M. A. Preece , A. Green
DOI: 10.1136/FN.74.3.F191
关键词:
摘要: AIMS: To assess the incidence of tyrosinaemia type I in West Midlands Region, and value current neonatal screening programmes for phenylketonuria (PKU) its detection. METHODS: Retrospective study results from PKU Birmingham (using plasma amino acid chromatography) rest Guthrie microbiological assay blood spot phenylalanine) was carried out between January 1985 March 1994. Patients with born region during same period were identified a regional database patients confirmed inherited metabolic disease. The specialist children9s hospital; centre investigation inborn errors, supraregional liver transplantation management paediatric RESULTS: Amino chromatography showed increased tyrosine 447 145,444 neonates Birmingham; this still at 6 weeks age six cases. Five had I; sixth III. Two others whom considered normal have since presented I. Outside Birmingham, 525,151 children screened using test. clinically did not contribute to diagnosis any case. 1 20,791 live births within 105,037 outside. Of total 12 I, 10 (83%) non-oriental Asian ethnicity; 3.7/10(6) head population group 0.04/10(6) population. CONCLUSIONS: Asians high Neonatal may early treatment.
sci-hub.se 参考文章(18)
A. Mortezai, M. Belanger, J. Larochelle, M. Tremblay, J. C. Claveau, G. Aubin, Experience with 37 infants with tyrosinemia. Canadian Medical Association Journal. ,vol. 97, pp. 1051- 1054 ,(1967)
Markus Grompe, Maryse St.-Louis, Sylvie I. Demers, Muhsen Al-Dhalimy, Barbara Leclerc, Robert M. Tanguay, A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I The New England Journal of Medicine. ,vol. 331, pp. 353- 357 ,(1994) , 10.1056/NEJM199408113310603
E. A. Kvittingen, Tyrosinaemia type I--an update. Journal of Inherited Metabolic Disease. ,vol. 14, pp. 554- 562 ,(1991) , 10.1007/BF01797926
F. A. Wijburg, W. Ch. C. Reitsma, M. J. H. Slooff, F. J. van Spronsen, H. A. Koetse, D. J. Reijngoud, G. P. A. Smit, R. Berger, C. M. A. Bijleveld, Liver transplantation in tyrosinaemia type I: the Groningen experience. Journal of Inherited Metabolic Disease. ,vol. 18, pp. 115- 118 ,(1995) , 10.1007/BF00711743
C Perez‐Cerda, B Merinero, P Sanz, M Castro, J Gangoiti, MJ Garcia, M Díaz, E Medina, M Ugarte, None, Liver transplantation in nine Spanish patients with tyrosinaemia type I. Journal of Inherited Metabolic Disease. ,vol. 18, pp. 119- 122 ,(1995) , 10.1007/BF00711744
André Grenier, André Lescault, Claude Laberge, Richard Gagné, Orvall Marner, Detection of succinylacetone and the use of its measurement in mass screening for hereditary tyrosinemia Clinica Chimica Acta. ,vol. 123, pp. 93- 99 ,(1982) , 10.1016/0009-8981(82)90117-6
René Romero, Joel E Lavine, A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I Grompe M, St,-Louis M, Demers SI, al-Dhalimy M, Leclerc B, Tanguay RM. N Engl J Med 1994;331:353?357 Hepatology. ,vol. 21, pp. 1193- 1195 ,(1995) , 10.1016/0270-9139(95)90273-2
S LINDSTEDT, Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase The Lancet. ,vol. 340, pp. 813- 817 ,(1992) , 10.1016/0140-6736(92)92685-9
E HOLME, Neonatal screen for hereditary tyrosinaemia type I The Lancet. ,vol. 340, pp. 850- ,(1992) , 10.1016/0140-6736(92)92724-T
I. Tavares de Almeida, P. P. Leandro, M. F. B. Silva, C. Silveira, A. Da Silva, J. Salazar de Sousa, M. Duran, Tyrosinaemia type I with normal levels of plasma tyrosine. Journal of Inherited Metabolic Disease. ,vol. 13, pp. 305- 307 ,(1990) , 10.1007/BF01799381