Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)

Pediatrics

Volumn 120, Issue 5, 2007, Pages

  Meyer, Ann ^a   Kossow, Kai ^a   Gal, Andreas ^a   Mühlhausen, Chris ^a   Ullrich, Kurt ^a   Braulke, Thomas ^a   Muschol, Nicole ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Mucopolysaccharidosis type III; Natural course; Sanfilippo syndrome; Scoring system

Indexed keywords

ARTICLE; CHILD; COGNITION; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; ENDOCARDITIS; ENZYME DEFICIENCY; EVALUATION RESEARCH; HEART DISEASE; HUMAN; MENTAL DETERIORATION; MOTOR DEVELOPMENT; MUCOPOLYSACCHARIDOSIS; PARENT COUNSELING; PRIORITY JOURNAL; PROTEIN DEGRADATION; SANFILIPPO SYNDROME; SCORING SYSTEM; SPEECH DEVELOPMENT; SYNDROME DELINEATION; TREATMENT PLANNING;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DISEASE PROGRESSION; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUCOPOLYSACCHARIDOSIS III; QUESTIONNAIRES; RESEARCH DESIGN;

EID: 36048940302     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2007-0282     Document Type: Article

References (27)

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3421-3452
2. Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005;28:1011-1017
3. Emre S, Terzioglu M, Tokatli A, et al. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. Hum Mutat. 2002;19:184-185
4. Michelakakis H, Dimitrou E, Tsagaraki S, Giouroukos S, Schulpis K, Bartsocas CS. Lysosomal storage diseases in Greece. Genet Couns. 1995;6:43-47
5. Cleary MA, Wraith JE. Management of MPS type III. Arch Dis Child. 1993;69:403-406
6. Van de Kamp JJ, Niermeijer MF, von Figura K, Giesberts MA. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet. 1981;20:152-160
7. Van Schrojenstein-de Valk HM, van de Kamp JJ. Follow-up on seven adult patients with mild Sanfilippo B-disease. Am J Med Genet. 1987;28:125-129
8. Nyhan WL, Barshop BA, Ozand PT, eds. Atlas of Metabolic Diseases. 2nd ed. London, United Kingdom: Hodder Education; 2005:524-531
9. Berger-Plantinga EG, Vanneste JA, Groener JE, van Schooneveld MJ. Adult-onset dementia and retinitis pigmentosa due to MPS III-C in two sisters. J Neurol. 2004;251:479-481
10. Di Natale P. Sanfilippo B disease: a re-examination of a particular sibship after 12 years. J Inherit Metab Dis. 1991;14:23-28
11. Gabrielli O, Coppa GV, Bruni S, Villani GR, Pontarelli G, Di Natale P. An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene. Am J Med Genet. 2005;133:85-89
12. Miyazaki T, Masuda N, Waragai M, Motoyoshi Y, Kurokawa K, Yuasa T. An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene. J Neurol Neurosurg Psychiatry. 2002;73:777-778
13. Scott HS, Blanch L, Guo XH, et al. Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Nat Genet. 1995;11:465-467
14. Sewell AC, Pontz BF, Benischek G. MPS type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree. Clin Genet. 1988;34:116-121
15. Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP. Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. J Med Genet. 2003;40:192-194
16. Tylki-Szymańska A, Czartoryska B, Górska D, Piesiewicz-Grzonkowska E. Type III D MPS (Sanfilippo D): clinical course and symptoms. Acta Paediatr Jpn. 1998;40:492-494
17. Di Natale P, Villani GR, Di Domenico C, Daniele A, Dionisi Vici C, Bartuli A. Analysis of Sanfilippo A gene mutations in a large pedigree. Clin Genet. 2003;63:314-318
18. Muschol N, Storch S, Ballhausen D, et al. Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with MPS type III A. Hum Mutat. 2004;23:559-566
19. Yogalingam G, Hopwood JJ. Molecular genetics of MPS type IIIA and IIIB: diagnostic, clinical, and biological implications. Hum Mutat. 2001;18:264-281
20. Kohlschütter A, Laabs R, Albani M. Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability. Acta Paediatr Scand. 1988;77:867-872
21. Steinfeld R, Heim P, von Gregory H, et al. Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet. 2002;112:347-354
22. De Jong JG, Wevers RA, Laarakkers C, Poorthuis BJ. Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem. 1989;35:1472-1477
23. Whiteman P, Young E. The laboratory diagnosis of Sanfilippo disease. Clin Chim Acta. 1977;76:139-147
24. Steer P. The epidemiology of preterm labour. BJOG. 2005;112(suppl 1):1-3
25. World Health Organization Multicentre Growth Reference Study Group. WHO Motor Development Study: windows of achievement for six gross motor development milestones. Acta Paediatr. 2006;450(suppl):86-95
26. Blackwell PB, Baker BM. Estimating communication competence of infants and toddlers. J Pediatr Health Care. 2002;16:29-35
27. Heffner LJ. Advanced maternal age: how old is too old? N Engl J Med. 2004;351:1927-1929