Biochemical diagnosis of Sanfilippo disorder types A and B.

IF 3.6 Q2 BIOTECHNOLOGY & APPLIED MICROBIOLOGY Journal, genetic engineering & biotechnology Pub Date : 2023-11-10 DOI:10.1186/s43141-023-00586-7
Soha S Nosier, Seham M S El Nakeeb, Mona M Ibrahim, Mona El-Gammal, Ekram M Fateen
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Abstract

Background: One of the 11 recognized mucopolysaccharidosis (MPS) diseases is Sanfilippo. It is autosomal recessive in its mode of transmission. There are four subtypes of Sanfilippo (A, B, C, and D). The most worldwide prevalent subtypes of mucopolysaccharidosis type III (MPS III) are A and B followed by C and D subtypes. To estimate the frequency of MPS IIIA among MPS III patients, we diagnose and compare their clinical features with those of MPS IIIB and also compare the prevalence of MPS IIIB versus MPS IIIA among diagnosed cases at the Biochemical Genetic Department at NRC. For every case that was referred, the quantitative determination of urine Glycosaminoglycans (GAGs) was assessed. Two-dimensional electrophoresis (2DE) of GAGs extracted from urine was performed on all cases with high urinary GAG levels. Both N-sulphoglucosamine sulphohydrolase (MPS IIIA) and N-alpha-acetylglucosaminidase (MPS IIIB) enzyme activity were determined fluorometrically.

Results: From November 2019 to May 2022, 535 cases were referred to the National Research Centre's Biochemical Genetics Department. 233 (43%) MPS cases were diagnosed with high urinary GAG levels for their ages. 73 (31.3%) MPS III cases were diagnosed by 2DE out of the 233 MPS cases. Plasma N-alpha-acetylglucosaminidase enzyme assay was insufficient in 36 (49.3%) patients (Sanfilippo type B), while N-sulphoglucosamine sulphohydrolase enzyme activity was deficient in 15 (20.6%) patients. The other 22 (30.1%) patients are either Sanfilippo type C or D.

Conclusion: N-sulphoglucosamine sulphohydrolase enzyme activity was measured for the first time in Egypt. Thirty-one percent of all diagnosed MPS cases during the last 3 years were MPS type III, making Sanfilippo the most common MPS type among the referred cases to our Biochemical Genetics Department. MPS IIIA accounts for 20.6% of MPSIII cases in this study. Still, MPS type IIIB is the commonest type among diagnosed patients.

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Sanfilippo障碍A型和B型的生化诊断。
背景:Sanfilippo是11种公认的粘多糖病之一。它的传播方式是常染色体隐性遗传。Sanfilippo有四种亚型(A、B、C和D)。粘多糖病III型(MPS III)在世界范围内最流行的亚型是A和B,其次是C和D亚型。为了估计MPS III患者中MPS IIIA的频率,我们诊断并比较了他们的临床特征与MPS IIIB的临床特征,还比较了NRC生化遗传科诊断病例中MPS IIIB与MPS IIIA之间的患病率。对于每一个被转诊的病例,都对尿液氨基甘醇(GAGs)的定量测定进行了评估。对所有尿GAG水平高的病例进行了从尿液中提取的GAG的二维电泳(2DE)。荧光法测定了N-硫葡糖胺硫水解酶(MPS IIIA)和N-α-乙酰氨基葡糖苷酶(MPS IIIB)的酶活性。结果:从2019年11月到2022年5月,535例病例被转诊到国家研究中心的生化遗传学部门。233例(43%)MPS病例被诊断为其年龄段的高尿GAG水平。233例MPS中,73例(31.3%)经2DE诊断为MPS III。36名(49.3%)患者(Sanfilippo B型)的血浆N-α-乙酰氨基葡糖苷酶测定不足,而15名(20.6%)患者的N-硫葡糖胺硫水解酶活性不足。其他22例(30.1%)患者为Sanfilippo C型或D型。在过去3年中,31%的诊断MPS病例为MPS III型,使Sanfilippo成为我们生化遗传学部门转诊病例中最常见的MPS类型。在本研究中,MPS IIIA占MPSIII病例的20.6%。尽管如此,MPS IIIB型是确诊患者中最常见的类型。
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