Abstract:
OBJECTIVES:To report the clinical and laboratory characteristics of urea cycle disorder (UCD) patients at a tertiary care center in a developing country. DESIGN AND METHODS:Retrospective study of clinical and laboratory data of UCD patients. RESULTS:Thirty-seven UCD patients were studied, 31 symptomatic (high risk) patients (15 neonatal onset, 16 late onset) and 6 with positive neonatal screening. Argininosuccinate synthetase deficiency was the most frequent disease (17/37, 46%), followed by ornithine transcarbamylase (10/37, 27%), arginase (7/37, 19%), and argininosuccinate lyase (3/37, 8%) deficiencies. Mortality of symptomatic patients was 38% (10/26), neonatal onset had the worst outcome, with 50% of survival. CONCLUSIONS:In Mexico, the mortality of the UCD patients is higher than those reported in other countries, and neurological sequels are frequent and severe. It is essential to implement practice guidelines for the professional management of these patients.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Ibarra-González I,Fernández-Lainez C,Vela-Amieva Mdoi
10.1016/j.clinbiochem.2009.12.004subject
Has Abstractpub_date
2010-03-01 00:00:00pages
461-6issue
4-5eissn
0009-9120issn
1873-2933pii
S0009-9120(09)00552-9journal_volume
43pub_type
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pub_type: 杂志文章
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更新日期:1997-03-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2006.04.020
更新日期:2006-07-01 00:00:00
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更新日期:1995-06-01 00:00:00
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更新日期:2018-06-01 00:00:00
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pub_type: 杂志文章,评审
doi:10.1016/j.clinbiochem.2009.07.014
更新日期:2009-12-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.03.137
更新日期:2011-07-01 00:00:00
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更新日期:2002-05-01 00:00:00
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更新日期:2010-11-01 00:00:00
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doi:10.1016/j.clinbiochem.2005.11.008
更新日期:2006-02-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2014.01.011
更新日期:2014-05-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/0009-9120(90)80024-d
更新日期:1990-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.09.028
更新日期:2010-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2018-11-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2006-06-01 00:00:00
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更新日期:2007-11-01 00:00:00
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pub_type: 杂志文章
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更新日期:2017-11-01 00:00:00
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更新日期:2010-07-01 00:00:00