Biochemical diagnosis of Sanfilippo disorder types A and B
Tóm tắt
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. 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. 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.
Tài liệu tham khảo
He´ron B, Mikaeloff Y, Froissart R et al (2011) Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet Part A. 155:58–68
Neufeld EF and Muenzer J. The mucopolysaccharidoses, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, 3McGraw-Hill, NewYork, 2001; 3421–3452.
Muschol N, Koehn A, Von Cossel K et al (2023) A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B. J Clin Invest 133(2):e165076
Muschol N, Giugliani R, Jones SA et al (2022) Sanfilippo syndrome: consensus guidelines for clinical care. Orphanet J Rare Dis 17:391
D’Avanzo F, Rigon L, Zanetti A, Tomanin R (2020) Mucopolysaccharidosis type II: one hundred years of research, diagnosis, and treatment. Int J Mol Sci 21(4):1258
Arunkumar N, Langan TJ, Stapleton M et al (2020) Newborn screening of mucopolysaccharidoses: past, present, and future. J Hum Genet 65(7):557–567
Valstar MJ, Neijs S, Bruggenwirth HT et al (2010) Mucopolysaccharidosis typeIII A: clinical spectrum and genotype-phenotype correlations. Ann Neurol 68(6):876–887
Wilkinson FI, Holley RJ, Langford Smith KJ et al (2012) Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB. PLoS One 7(4):e35787
Seker YB, Davison J, Jones SA et al (2021) Novel therapies for mucopolysaccharidoses type III. J Inherit Metab Dis 44(1):129–147
De Dong JG, Wevers RA, Liebrand-van SR (1992) Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidosis based on dimethyleneblue. Clin Chem 38:803–807
Winner LK, Rogers M, Snel MF et al (2023) Biomarkers for predicting disease course in Sanfilippo syndrome: an urgent unmet need in childhood-onset dementia. J Neurochem 3(166):481–496
Fateen EM, Gouda AS, Ibrahim MM, et al (a) (2014) Fifteen years’ experience: Egyptian metabolic lab. Egypt J Med Hum Genet 15:379–385
Ibrahim DMA, Ali OSM, Nasr H et al (2023) Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile. Tay-Sachs diseaseExpansion of the mutation spectrum. Orphanet J Rare Dis 18:52
Ben Turkia H, Tebib N, Azzouz H et al (2009) Incidence of mucopolysaccharidoses in Tunisia. La tuni Med 87:782–785
Fateen E, Abdallah ZY, Nazim WS et al (2021) Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt. Heliyon 8(7):e07830
Temtamy SA and Loutife A (1970) Surgical aspects of cleft lip-cleft palate problems in Egypt. CL Palate J 578–581
Temtamy SA, Aglan MS and Meguid NA (2010) Genetic disorders in the Egyptians, in: A.S. Teebi (Ed.). Genetic Disorders Among Arab Population. Springer
Rouse CJ, Jensen VN, Heldermon CD (2023) Mucopolysaccharidosis type IIIB: a current review and exploration of the AAV therapy landscape. Neural Regen Res 19(2):355–359
Coutinho MF, Lacerda L, Alves S (2012) Glycosaminoglycan storage disorders: a review. Biochem Res Int 2012:1–16
Andrade F, Aldamiz-Echevarria L, Llarena M et al (2015) Sanfilippo syndrome: overall review. Pediatr Int 57:331–338
Zafeiriou DI, Savvopoulou-Augoustidou PA, Sewell A et al (2001) Serial magnetic resonance imaging findings in mucopolysaccharidoses III B (Sanfilippo’s syndrome B). Brain Dev 23:385–389
Jansen AC, Cao H, Kaplan P et al (2007) Sanfilippo Syndrome Type D: natural history and identification of 3 novel mutations in the GNS gene. Arch Neurol 64:1629–1634
Buhrman D, Thakkar K, Poe M et al (2013) Natural history of Sanfilippo syndrome type A. J Inherit Metab Dis 37(3):431–437
Fesslova V, Coru P, Sersale G et al (2009) The natural course and the impact of the therapies of cardiac involvement in mucopolysaccharidosis. Cardiol, Young 19:170–178
Muschol N, Koehn A, Von Cossel K et al (2023) A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B. J Cin Invest 133(2):e165076
Braunlin E, Wang R (2016) Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs. Heart 102(16):1257–1262
Tomatsu S, Okamura K, Maeda H et al (2005) Keratan sulfate levels in mucopolysaccharidoses and mucolipidosis. J Inherit Metab Dis 28:187–202
Fateen EM, Ibrahim MM, Gouda AS, et al (b) (2014) Biochemical diagnosis of mucopolysaccharidoses over 11 years: the Egyptian experience. Egypt J Med Hum Genet 3(1):16–23
Alfadhel M, Benmeakel M, Hossain MA, Al Mutairi F, Al Othaim A, Alfares AA, Al Balwi M, Alzaben A, Eyaid W (2016) Thirteen-year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. Orphanet J. Rare Dis 11:126
Al-Jasmi FA, Tawfig N, Berniah A et al (2013) Prevalence and novel mutations of lysosomal storage disorders in United Arab Emirates: LSD in UAE. JIMD Rep 10:1–9
Krabbi K, Joost K, Zordania R et al (2012) The livebirth prevalence of mucopolysaccharidoses in Estonia. Genet Test Mol Biomarkers 16:846–849
Karpova EA, Voznyi YaV, Keulemans JL et al (1996) A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J. Inherit. Metab. Dis 19(3):278–285
Breveglieri G, D’Aversa E, Finotti A et al (2019) Non-invasive prenatal testing using fetal DNA. Mol Diagn Ther 23:291–299
Harmatz P, Ketteridge D, Giugliani R et al (2005) Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics 115:e681–e689
de Jong JG, Wevers RA, Laarakkers C, Poorthuis BJ et al (1989) Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem 35(7):1472–1477
Applrgarth ER, Elango EM, Priya S, Maya SR (1997) Diagnostic electrophoresis of glycosami-noglycans: a screening method for mucopolysaccharidosis. Indian J Pediatr 56:505–510
Tessitore A, Villani GRD, Di Domenico C et al (2000) Molecular defects in the a-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. Hum Genet 107:568–576
Cooper A, Hatton CF, Thornley M et al (1988) Human β-mannosidase deficiency Biochemical findings in plasma, fibroblasts, white cells and urine. J Inher Metab Dis 11:17–29
Lowry OH, Rosebrough NJ, Farr AL et al (1951) Protein measurement with folin phenol reagent. J Biol Chem 193:265–275
Rintz E, Podlacha M, Cyske Z et al (2023) Activities of (poly) phenolic antioxidants and other natural autophagy modulators in the treatment of Sanfilippo disease: remarkable efficacy of resveratrol in cellular and animal models. Neurotherapeutics 20:254–271
Auray-Blais C, Bhérer P, Gagnon R et al (2011) Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I. II and VI Mol Genet Metab 102:49–56
Al-Sannaa NA, Al-Abdulwahed HY, Al-Ghamdi MS (2017) Lysosomal storage disorders (LSDs): the prevalence in the Eastern Province of Saudi Arabia. Int J Neurol Dis 1(2):38–43
Shawky R, Zaki E, Fateen E et al (2008) Profile of Egyptian patients with mucopolysaccharidoses. Egypt J Med Hum Genet 9:11–21
Shawky RM, Abdel Monim MT, el Sebai AA et al (2001) Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses. East. Mediterr. Health J 7(6):981–991
Selim L, Abdelhamid N, Salama E et al (2016) Cardiovascular abnormalities in Egyptian children with mucopolysaccharidoses. J. Clin. Diagn. Res 10(11):SC05–SC08
Nijmeijer SCM, Van den Born LI, Kievit AJA et al (2019) The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype. Orphanet J Rare Dis 14(1):1–10