脂肪酸氧化代谢病新生儿筛查
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摘要
脂肪酸氧化代谢病(FAOD)是脂肪酸进入线粒体或脂肪酸β氧化所需酶的功能障碍造成的一组常染色体隐性遗传疾病,主要包括肉碱转运障碍与脂肪酸β氧化障碍两大类。临床表现无特异性,累及包括肝脏、心肌、骨骼肌、脑和肾脏等多器官,多数新生儿筛查确诊的FAOD患儿通过早期干预管理,无临床症状或症状轻微,但饥饿、运动等应激条件下易急性发病甚至猝死,长期随访与管理可有效减低FAOD致死、致残率。
()of recessive hereditary diseases caused by the dysfunction of enzymes required for fatty acids to enter mitochondria or fatty acid beta-oxidation,including carnitine transport disorders and fatty acid beta-oxidation disorders. Clinical symptoms are non-specific,involving multiple organs,such as liver,myocardium,skeletal muscle,brain and kidney. Most FAOD patients diagnosed by newborn screening have no clinical symptoms or mild symptoms through early intervention management,but they are prone to acute onset or even sudden death under stress conditions such as hunger and exercise. Long-term follow-up and management can effectively reduce the mortality and morbidity rate of FAOD.
()of recessive hereditary diseases caused by the dysfunction of enzymes required for fatty acids to enter mitochondria or fatty acid beta-oxidation,including carnitine transport disorders and fatty acid beta-oxidation disorders. Clinical symptoms are non-specific,involving multiple organs,such as liver,myocardium,skeletal muscle,brain and kidney. Most FAOD patients diagnosed by newborn screening have no clinical symptoms or mild symptoms through early intervention management,but they are prone to acute onset or even sudden death under stress conditions such as hunger and exercise. Long-term follow-up and management can effectively reduce the mortality and morbidity rate of FAOD.
引文
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[2]Feuchtbaum L,Carter J,Dowray S,et al.Birth prevalence of disorders detectable through newborn screening by race/ethnicity[J].Genet Med,2012,14(11):937-945.
[3]Lindner M,Gramer G,Haege G,et al.Efficacy and outcome of expanded newborn screening for metabolic diseases-report of10 years from South-West Germany[J].Orphanet J Rare Dis,2011,6:44.
[4]la Marca G,Malvagia S,Casetta B,et al.Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany:update on methods to reduce false tests[J].J Inherit Metab Dis,2008,31(Suppl 2):S395-404.
[5]Rocha H,Casti?eiras D,Delgado C,et al.Birth prevalence of fatty acidβ-oxidation disorders in Iberia[J].JIMD Rep,2014,16:89-94.
[6]郑静,张玉,洪芳,等.新生儿脂肪酸氧化代谢病的筛查分析及随访研究[J].浙江大学学报(医学版),2017,46(8):248-255.
[7]Bonnefont JP,Djouadi F,Prip-Buus C,et al.Carnitine palmitoyl transferases 1 and 2:biochemical,molecular and medical aspects[J].Mol Aspects Med,2004,25(5-6):495-520.
[8]van Maldegem BT,Kloosterman SF,Janssen WJ,et al.High prevalence of short-chain acyl-CoA dehydrogenase deficiency in the Netherlands,but no association with epilepsy of unknown origin in childhood[J].Neuropediatrics,2011,42(1):13-17.
[9]Vilarinho L,Rocha H,Sousa C,et al.Four years of expanded newborn screening in Portugal with tandem mass spectrometry[J].J Inherit Metab Dis,2010,33(Suppl 3):133-138.
[10]Loukas YL,Soumelas GS,Dotsikas Y,et al.Expanded newborn screening in Greece:30 months of experience[J].J Inherit Metab Dis,2010,33(Suppl 3):341-348.
[11]Oerton J,Khalid JM,Besley G,et al.Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England:prevalence,predictive value and test validity based on1.5 million screened babies[J].J Med Screen,2011,18(4):173-181.
[12]Pena LDM,Calcar SCV,Hansen J,et al.Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database[J].Mol Genet Metab,2016,118(4):272-281.
[13]Yamada K,Kobayashi H,Bo R,et al.Clinical,biochemical and molecular investigation of adult-onset glutaric acidemia typeⅡ:characteristics in comparison with pediatric cases[J].Brain Dev,2016,38(3):293-301.
[14]Han L,Han F,Ye J,et al.Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry[J].J Clin Lab Anal,2015,29(2):162-168.