Abstract
Mucopolysaccharidosis 1 (MPS1) is a rare inherited lysosomal storage disorder resulting
from the absence or reduction of lysosomal alpha-l-iduronidase due to mutations in
the IDUA gene. Three major clinical manifestations have been established including Hurler's
or severe type (OMIM 607914), Hurler–Scheie or intermediate type (MIM 607914) and
Scheie's or attenuated type (MIM 607016). In the present study, a patient whose disease
was diagnosed by biochemical and enzymatic assay was studied in our laboratory. Molecular
analysis implemented by PCR-sequencing of all 14 exons and exon–intron junctions confirmed
a novel deleterious mutation in a homozygous state. The result of this study has broadened
the genotypic spectrum of MPS1 patients, assisting in a more effective approach for
carrier testing and counseling.
Keywords
mucopolysaccharidosis type 1 - lysosomal storage disorder - alpha-l-iduronidase -
mutation
