Abstract:
:Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We report a case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis. Gas chromatography-mass spectrometry-based urine metabolomics demonstrated significant elevations of dihydrouracil and dihydrothymine, which were subsequently confirmed by a quantitative analysis using liquid chromatography-tandem mass spectrometry. Genetic testing of the DPYS gene revealed two mutations: a novel mutation (c.175G > T) and a previously reported mutation (c.1469G > A). Dihydropyrimidinase deficiency is probably underdiagnosed, considering its wide phenotypical variability, nonspecific neurological presentations, and an estimated prevalence of 2/20,000. As severe 5-fluorouracil-associated toxicity has been reported in patients and carriers of congenital pyrimidine metabolic disorders, urinary pyrimidine analysis should be considered for those who will undergo 5-fluorouracil treatment.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Tsuchiya H,Akiyama T,Kuhara T,Nakajima Y,Ohse M,Kurahashi H,Kato T,Maeda Y,Yoshinaga H,Kobayashi Kdoi
10.1016/j.braindev.2018.10.005subject
Has Abstractpub_date
2019-03-01 00:00:00pages
280-284issue
3eissn
0387-7604issn
1872-7131pii
S0387-7604(18)30381-4journal_volume
41pub_type
杂志文章abstract:BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.04.008
更新日期:2018-09-01 00:00:00
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journal_title:Brain & development
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journal_title:Brain & development
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pub_type: 杂志文章
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journal_title:Brain & development
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journal_title:Brain & development
pub_type: 杂志文章
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.014
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.04.002
更新日期:2013-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.08.007
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journal_title:Brain & development
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更新日期:2018-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.08.013
更新日期:2020-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.12.005
更新日期:2016-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:1986-01-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/S0387-7604(03)00170-0
更新日期:2004-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.04.006
更新日期:2009-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80282-8
更新日期:1992-01-01 00:00:00
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journal_title:Brain & development
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doi:10.1016/j.braindev.2006.08.004
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更新日期:2017-03-01 00:00:00
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pub_type: 杂志文章
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更新日期:2006-06-01 00:00:00
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journal_title:Brain & development
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更新日期:2013-10-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
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更新日期:2004-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.03.013
更新日期:2010-03-01 00:00:00
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更新日期:2000-06-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
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更新日期:1993-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00129-7
更新日期:2000-08-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:
更新日期:1988-01-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2019-08-01 00:00:00