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圣菲利普波疾病A类和B类型的生物化学诊断

Soha S Nosier¹, Seham M S El Nakeeb², Mona M Ibrahim³

¹Biochemical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt. dr.sohanosier@yahoo.com.

Journal, genetic engineering & biotechnology

|November 10, 2023

概括

圣菲利普综合征 (MPS III) 是埃及最常见的粘多糖类型,其中MPS IIIB是最常见的亚型. 这项研究为埃及首次测量N-硫氨酸硫酸酶活性.

科学领域:

生物化学生物化学
遗传学是一个遗传学.
罕见疾病罕见疾病

背景情况:

粘多糖症 (MPS) 涵盖了11种疾病,包括桑菲利波综合征 (MPS III),一种自体逆向性疾病.
桑菲利波综合征有四种亚型:A,B,C和D,其中A和B是全球最普遍的.
本研究的重点是比较MPS IIIA和MPS IIIB的频率和临床特征.

研究的目的:

为了估计MPS III患者中MPS IIIA的频率.
为了比较MPS IIIA和MPS IIIB的临床特征.
在国家研究中心 (NRC) 诊断的病例中确定MPS IIIB与MPS IIIA的流行率.

主要方法:

对所有所述病例的尿液葡萄糖氨基甘 (GAG) 的定量测定.
尿液GAG的二维电泳 (2DE) 对于水平升高的病例.
度测定N-硫黄糖胺硫酶 (MPS IIIA) 和N-α-乙糖胺酶 (MPS IIIB) 酶活动.

主要成果:

在535个转诊病例中,233个 (43%) 被诊断为MPS.
73 (31.3%) 的MPS病例被确定为MPS III.
酶试验显示36名 (49.3%) 患者 (MPS IIIB) 患有N-α-乙糖氨酸酶缺乏症,15名 (20.6%) 患者 (MPS IIIA) 患有N-硫糖氨酸胺硫酸酶缺乏症.

结论:

桑菲利波综合征 (MPS III) 占诊断的MPS病例的31%,使其成为NRC生物化学遗传学部门最常见的MPS类型.
在这项研究中,在被诊断为MPS III患者中,MPS IIIB是最常见的亚型.
这项研究标志着埃及首次测量N-硫氨酸硫酸酶活性.

关键词:

粘多糖糖症是什么粘多糖症是什么 N-α-乙糖氨基酶酶的酶N-α-乙糖氨基酶的酶 N-硫糖胺硫酸盐酶的硫糖胺.圣菲利普波疾病是一种疾病.

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