Abstract:
:Metachromatic leukodystrophy is an inherited disorder characterized by a deficiency of the lysosomal enzyme arylsulfatase A and the subsequent accumulation of sulfatide in neural and visceral tissues. Clinical diagnosis is usually confirmed by in vitro analysis of arylsulfatase A activity, but may be complicated in cases of arylsulfatase A pseudodeficiency and sphingolipid activator protein deficiency. Large quantities of sulfatide can be detected in the urinary sediment of affected individuals and its measurement can aid in diagnosis. A number of complex methods have been described for the measurement of urinary sulfatide excretion. We have developed a rapid, sensitive, and specific mass spectrometric method for determining urinary sulfatide concentration of metachromatic leukodystrophy patients. Sulfatides are extracted from urine and then directly analyzed using electrospray ionization-tandem mass spectrometry. A sulfatide internal standard has been employed for quantification. The assay has demonstrated significant elevations in the concentrations of several hydroxy and nonhydroxy molecular species of sulfatide in the urine of metachromatic leukodystrophy patients compared to age-matched controls. Analysis of urinary sulfatides in arylsulfatase A pseudodeficiency patients showed a mild elevation in some individuals when related to urinary phosphatidylcholine.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
Whitfield PD,Sharp PC,Johnson DW,Nelson P,Meikle PJdoi
10.1006/mgme.2001.3165subject
Has Abstractpub_date
2001-05-01 00:00:00pages
30-7issue
1eissn
1096-7192issn
1096-7206pii
S1096-7192(01)93165-8journal_volume
73pub_type
杂志文章abstract:OBJECTIVE:To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency. METHODS:In this observational stud...
journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2011.01.015
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pub_type: 杂志文章
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pub_type: 杂志文章
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pub_type: 杂志文章
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.2001.3168
更新日期:2001-05-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2012.10.006
更新日期:2012-12-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2004.06.007
更新日期:2004-09-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2005.08.009
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pub_type: 杂志文章
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pub_type: 杂志文章,评审
doi:10.1006/mgme.1998.2729
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pub_type: 杂志文章
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journal_title:Molecular genetics and metabolism
pub_type: 临床试验,杂志文章
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更新日期:2004-06-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2015.09.010
更新日期:2015-11-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.2000.3130
更新日期:2001-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 临床试验,杂志文章,多中心研究
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更新日期:2015-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2018.09.009
更新日期:2019-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2005.06.010
更新日期:2006-03-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.2001.3222
更新日期:2001-11-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2016.08.009
更新日期:2016-11-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2005.12.001
更新日期:2006-04-01 00:00:00