دورية أكاديمية
أعرض في EDS

Biochemical diagnosis of Sanfilippo disorder types A and B.

التفاصيل البيبلوغرافية
العنوان: Biochemical diagnosis of Sanfilippo disorder types A and B.
المؤلفون: Nosier SS; Biochemical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt. dr.sohanosier@yahoo.com., El Nakeeb SMS; Medical Biochemistry Department, Faculty of Medicine (for Girls), Al-Azhar University, Cairo, Egypt., Ibrahim MM; Biochemical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Gammal M; Clinical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt., Fateen EM; Biochemical Genetics Department, Human Genetic and Genome Research Institute, National Research Centre, Cairo, Egypt.
المصدر: Journal, genetic engineering & biotechnology [J Genet Eng Biotechnol] 2023 Nov 10; Vol. 21 (1), pp. 112. Date of Electronic Publication: 2023 Nov 10.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101317150 Publication Model: Electronic Cited Medium: Internet ISSN: 2090-5920 (Electronic) Linking ISSN: 1687157X NLM ISO Abbreviation: J Genet Eng Biotechnol Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2024- : [Amsterdam, Netherlands] : Elsevier B.V.
Original Publication: [Cairo] : Academy of Scientific Research and Technology, Information and Scientific Services Sector, National Information and Documentation Center
مستخلص: 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.
(© 2023. The Author(s).)
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فهرسة مساهمة: Keywords: Mucopolysaccharidosis; N-alpha-acetylglucosaminidase enzymes; N-sulphoglucosamine sulphohydrolase; Sanfilippo disorder
تواريخ الأحداث: Date Created: 20231110 Latest Revision: 20231113
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC10638229
DOI: 10.1186/s43141-023-00586-7
PMID: 37947910
قاعدة البيانات: MEDLINE
الوصف
تدمد:2090-5920
DOI:10.1186/s43141-023-00586-7