Abstract:
:Medium-chain acyl-coA dehydrogenase (MCAD) deficiency is a commonly detected fatty acid oxidation disorder and its diagnosis relies on both biochemical and molecular analyses. Over a 5-year period, sequencing all 12 exons of the MCAD gene (ACADM) in our laboratory revealed a total of 54 variants in 549 subjects analyzed. As most molecular ACADM testing is referred for the follow-up of an abnormal newborn screening result obtained from an asymptomatic newborn, the identification of a novel DNA variant, or "variant of unknown significance (VUS)," presents clinicians with a dilemma. Frequently, the results of molecular analyses are correlated to biochemical findings, such as the concentration of octanoylcarnitine (C8) in plasma and the excretion of hexanoylglycine (HG) in urine. Here, we describe the classification of genotypes harboring at least one VUS through the comparison of C8 and HG values measured in individuals who are carriers of, or affected with, MCAD deficiency on the basis of the following genotypes: c.985A>G/wildtype, c.199T>C/c.985A>G and c.985A>G/c.985A>G. Our findings emphasize the importance of obtaining both plasma and urine when following up positive newborn screening results and may influence the way physicians counsel their asymptomatic patients about MCAD deficiency after genetic analysis.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
Smith EH,Thomas C,McHugh D,Gavrilov D,Raymond K,Rinaldo P,Tortorelli S,Matern D,Highsmith WE,Oglesbee Ddoi
10.1016/j.ymgme.2010.04.001subject
Has Abstractpub_date
2010-07-01 00:00:00pages
241-50issue
3eissn
1096-7192issn
1096-7206pii
S1096-7192(10)00146-0journal_volume
100pub_type
杂志文章abstract::Neutral lipid storage disease with myopathy (NLSD-M) is a rare autosomal recessive disorder characterised by an abnormal accumulation of triacylglycerol into cytoplasmic lipid droplets (LDs). NLSD-M patients are mainly affected by progressive myopathy, cardiomyopathy and hepatomegaly. Mutations in the PNPLA2 gene caus...
journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2005-05-01 00:00:00
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pub_type: 杂志文章
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pub_type: 杂志文章
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更新日期:2010-04-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2009.12.010
更新日期:2010-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/j.ymgme.2009.09.003
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:2019-04-01 00:00:00
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pub_type: 杂志文章
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更新日期:2014-07-01 00:00:00
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pub_type: 杂志文章
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更新日期:2013-01-01 00:00:00
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pub_type: 杂志文章
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更新日期:2016-02-01 00:00:00
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pub_type: 杂志文章
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更新日期:2012-03-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章,评审
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更新日期:2019-11-01 00:00:00
abstract::Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia. A female adolescent with arginase deficiency developed hyperammonemic episodes temporally related to her menstrual cycle, which ceased upon adequate treatment wi...
journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
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更新日期:2006-12-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2004.08.017
更新日期:2005-01-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2012.02.002
更新日期:2012-04-01 00:00:00
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pub_type: 杂志文章,实务指引
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更新日期:2012-05-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1006/mgme.2000.2975
更新日期:2000-04-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2017.11.004
更新日期:2018-02-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2010.03.004
更新日期:2010-06-01 00:00:00
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journal_title:Molecular genetics and metabolism
pub_type: 杂志文章
doi:10.1016/j.ymgme.2005.06.005
更新日期:2005-09-01 00:00:00