Rapid deterioration of a patient with mucopolysaccharidosis type I during interruption of enzyme replacement therapy [2]

American Journal of Medical Genetics, Part A

Volumn 143, Issue 16, 2007, Pages 1925-1927

  Wȩgrzyn, Grzegorz ^a   Tylki Szymańska, Anna ^b   Liberek, Anna ^c   Piotrowska, Ewa ^a   Jakóbkiewicz Banecka, Joanna ^d   Marucha, Jolanta ^b   Czartoryska, Barbara ^e   Wȩgrzyn, Alicja ^d  

^a UNIVERSITY OF GDA SK   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c MEDICAL UNIVERSITY OF GDANSK   (Poland)

^d INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

^e INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

LARONIDASE;

ALLELE; CLINICAL FEATURE; DETERIORATION; DISEASE EXACERBATION; DISEASE SEVERITY; DRUG WITHDRAWAL; ENZYME REPLACEMENT; GENE MUTATION; HUMAN; HURLER SYNDROME; LETTER; PRIORITY JOURNAL; SYMPTOMATOLOGY; TREATMENT OUTCOME;

CHILD, PRESCHOOL; FEMALE; HAIR; HUMANS; IDURONIDASE; MICROSCOPY, ELECTRON, SCANNING; MUCOPOLYSACCHARIDOSIS I; TREATMENT OUTCOME;

EID: 34547642178     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31831     Document Type: Letter

References (11)

1. Anbu AT, Mercer J, Wraith JE. 2006. Effect of discontinuing of laronidase in a patient with mucopolysacharidosis type I. J Inherit Metab Dis 29:230-231.
2. Czartoryska B, Tylki-Szymańska A, Ługowska A. 2000. Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease. Clin Biochem 33:147-149.
3. Grinzaid KA, Geller E, Hanna SL, Elsas LJ II. 2002. Cessation of enzyme replacement therapy in Gaucher disease. Genet Med 4:427-433.
4. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Philips J, Doroshow R, Walot I, Hoft R, Neufeld EF. 2001. Enzyme-replacement therapy in mucopolysaccharidosis I. New Eng J Med 344:182-188.
5. Kloska A, Bohdanowicz J, Konopa G, Tylki-Szymańska A, Jakóbkiewicz-Banecka J, Czartoryska B, Liberek A, Wȩgrzyn A, Wȩgrzyn G. 2005. Changes in hair morphology ofmucopolysaccharidosis I patients treated with recombinant human α-L-iduronidase (laronidase, Aldurazyme). Am J Med Genet Part A 139A:199-203.
6. Neufeld EF, Muenzer J. 2001. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill Co. p 3421-3452.
7. Pennock CA. 1976. A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of mucopolysaccharidoses. J Clin Pathol 29:111-123.
8. Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, Okazaki S, Huff K, Cox GF, Swiedler SJ, Kakkis ED. 2007. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab 90:171-180.
9. Wȩgrzyn G, Wȩgrzyn A, Tylki-Szymańska A. 2004. A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses. Med Hypoth 62:986-992.
10. Wraith JE. 2005. The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 6:489-506.
11. Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF. 2004. Enzyme replacement therapy for mucopolysaccharidosis I: A randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (Laronidase). J Pediatr 144:581-588.