Abstract：
:Biotinidase deficiency is an autosomal recessive metabolic disorder included in many newborn screening programmes. Prior to the introduction of screening for biotinidase deficiency in Sweden in 2002, the disorder was almost unknown, with only one case diagnosed clinically. Biotinidase activity was measured in dried blood spots with a semiquantitative method using biotin-6-amidoquinoline as substrate. The cutoff value was set at 25% (later lowered to 20%) of the mean activity of all samples measured on that day. The disorder was confirmed by quantitative determination of biotinidase activity in plasma and DNA analyses. Over a period of 6 years, 13 patients were identified among 637,452 screened newborns and 5,068 adoptive/immigrant children. None of the patients had clinical symptoms at the time of diagnosis. Six patients had profound biotinidase deficiency, with an activity of 0-5% of normal in plasma. Four of these patients were born to parents who were first cousins of Middle Eastern or African origin. Eighteen gene alterations were identified, nine of which have not previously been described: seven mutations p.L83S (c.248T > C), p.R148H (c.443G > A), p.N202I (c.605A > T), p.I255T (c.764T > C), p.N402S (c.1205A > G), p.L405P (c.1214T > C), p.G445R (c.1333G > A) and two silent mutations p.L71L (c.211C > T) and p.L215L (c.645C > T). The predicted severity of the novel mutations was analyzed by sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen), predicting p.L83S, p.L405P and p.G445R as severe mutations. Due to the high rate of immigrants since 1990 from non-Nordic countries, the incidence of biotinidase deficiency is similar to that found in many other Western countries.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Ohlsson A,Guthenberg C,Holme E,von Döbeln Udoi
10.1007/s10545-010-9065-ysubject
Has Abstractpub_date
2010-12-01 00:00:00pages
S175-80eissn
0141-8955issn
1573-2665journal_volume
33 Suppl 3pub_type
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
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doi：10.1007/BF01800063
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journal_title：Journal of inherited metabolic disease
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journal_title：Journal of inherited metabolic disease
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doi：10.1002/jimd.12219
更新日期：2020-07-01 00:00:00
abstract：:Fabry disease (McKusick 301500) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase A activity, which leads to accumulation of glycosphingolipids, especially in vascular smooth-muscle and endothelial cells. The effect of this accumulation on peripheral and cardiac vascular function is poorly...
journal_title：Journal of inherited metabolic disease
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doi：10.1007/s10545-005-0563-2
更新日期：2005-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 临床试验,杂志文章
doi：10.1023/a:1005608113270
更新日期：2000-07-01 00:00:00
abstract：:Large neutral amino acids (LNAAs) have been used on a limited number of patients with phenylketonuria (PKU) with the purpose of decreasing the influx of phenylalanine (Phe) to the brain. In earlier studies on mice with PKU (ENU(2)/ENU(2)), LNAAs were given and a surprising decline in blood Phe concentrations was obser...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,多中心研究
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01805473
更新日期：1985-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,多中心研究
doi：10.1007/s10545-009-1290-x
更新日期：2009-12-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01800350
更新日期：1992-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01801662
更新日期：1985-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF01799334
更新日期：1990-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1002/jimd.12095
更新日期：2019-09-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/BF02338974
更新日期：1983-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1023/a:1005587915468
更新日期：1999-08-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1002/jimd.12030
更新日期：2019-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-005-7055-2
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journal_title：Journal of inherited metabolic disease
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doi：10.1023/a:1016502408305
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/BF01799618
更新日期：1992-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-011-9319-3
更新日期：2011-06-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
doi：10.1007/s10545-008-0868-z
更新日期：2008-12-01 00:00:00
abstract：:We are constantly exposed to sources of agents that directly damage the genetic material. This exposure comes from environmental sources but also from within our own organisms. DNA damage occurs at a high frequency due to metabolic processes and environmental factors such as various exposures and the intake of food an...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1023/a:1015681929316
更新日期：2002-05-01 00:00:00
abstract：:The human genome contains about 3 x 10(9) base pairs which, based on average estimates for the size of coding regions, might suggest an upper limit of about 3 million genes. Evidence from a variety of approaches indicates a much lower figure--in the range 40,000-100,000 genes. Renaturation kinetic analysis reveals the...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/BF00711355
更新日期：1994-01-01 00:00:00
abstract：: ...
journal_title：Journal of inherited metabolic disease
pub_type： 评论,信件
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更新日期：2018-11-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
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更新日期：1995-01-01 00:00:00
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journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章,评审
doi：10.1007/s10545-012-9459-0
更新日期：2013-03-01 00:00:00
abstract：:Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed r...
journal_title：Journal of inherited metabolic disease
pub_type： 杂志文章
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