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国际眼科纵览 1980年第1期 8-11页

作者：刘金铃原子能研究所职工医院

高胱氨酸尿症是一种先天性氨基酸代谢异常,为常染色体隐性遗传。其临床表现于1962年首先为Field所描述,同年Carson和Ger-ritsen进行了有关代谢的研究,并应用化学的色层分析法证明了在该病患者的尿液中,有高胱氨酸存在。高胱氨酸尿症临... 详细信息

高胱氨酸尿症是一种先天性氨基酸代谢异常,为常染色体隐性遗传。其临床表现于1962年首先为Field所描述,同年Carson和Ger-ritsen进行了有关代谢的研究,并应用化学的色层分析法证明了在该病患者的尿液中,有高胱氨酸存在。高胱氨酸尿症临床上具有“晶体脱位、

关键词：晶体脱位酸尿青光眼综合征综合病症眼部 homocystinuria

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Newborn screening for remethylation disorders and vitamin deficiency-evaluation of new strategies in cohorts from Qatar and Germany

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World Journal of Pediatrics 2017年第2期13卷 136-143页

作者： Gwendolyn Gramer Ghassan Abdoh Tawfeg Ben-Omran Noora Shahbeck Rehab Ali Laila Mahmoud Junmin Fang-Hoffmann Georg F.Hoffmann Hilal Al Rifai Jürgen G.Okun University Hospital Heidelberg Center for Pediatric and Adolescent MedicineDivision of Neuropediatrics and Metabolic MedicineHeidelbergGermany Department of Pediatrics Hamad Medical CorporationDohaQatar

Background:Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-β-synthase deficiency).Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from ***:A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine,methionine-phenylalanine-ratio and propionylcarnitine as *** cnt-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and ***:Over a 12 months period,the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%,while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for *** the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one patient with an isolated remethylation *** retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cutoffs used in the proposed new *** addition,an adapted strategy for Germany using methionine,methionine-phenylalanine-ratio and propionylcarnitine as first-tier,and homocysteine as a second-tier test was also positively evaluated ***:The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency

关键词： classical homocystinuria newborn screening remethylation disorders second-tier vitamin B12 deficiency

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