Premium
Changes in hair morphology of mucopolysaccharidosis I patients treated with recombinant human α‐ L ‐iduronidase (laronidase, Aldurazyme)
Author(s) -
Kloska Anna,
Bohdanowicz Jerzy,
Konopa Grażyna,
TylkiSzymńska Anna,
JakóbkiewiczBanecka Joanna,
Czartoryska Barbara,
Liberek Anna,
Węgrzyn Alicja,
Węgrzyn Grzegorz
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31021
Subject(s) - enzyme replacement therapy , glycosaminoglycan , dermatan sulfate , mucopolysaccharidosis i , hunter syndrome , heparan sulfate , recombinant dna , mucopolysaccharidosis type ii , mucopolysaccharidosis type i , enzyme , chemistry , medicine , biochemistry , disease , gene
Mucopolysaccharidoses (MPS) are heritable, metabolic diseases caused by accumulation of mucopolysaccharides (glycosaminoglycans, GAGs) in lysosomes. This accumulation is due to a deficiency in one of several specific enzymes involved in the degradation of GAGs. MPS type I (MPS I) is caused by low or undetectable activity of α‐ L ‐iduronidase, an enzyme involved in removing the terminal iduronic acid residues from heparan and dermatan sulfate. Recently, an enzyme replacement therapy (ERT) for MPS I, based on administration of recombinant human α‐ L ‐iduronidase (laronidase, Aldurazyme), became available. The assessment of efficacy of ERT is especially important because MPS I is a highly variable and very rare disease, and the clinical trials involved relatively low number of patients. Among various significant clinical improvements during ERT, remarkable changes in hair morphology were noted. Detailed studies of hair samples from one patient, who did not have a hair cut from the beginning of ERT to the end of this study, and supported by results obtained for two other patients, revealed hair shaft structural abnormalities in MPS I hair. These hair abnormalities disappeared upon treatment with Aldurazyme. Although hair morphology is of limited clinical importance, the data suggest that changes in this parameter could be a useful, additional tool for a rapid, non‐invasive, preliminary assessment of ERT efficacy. © 2005 Wiley‐Liss, Inc.