Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is Metabolism by lysosomal accumulation with a recessive inheritance pattern associated with the X chromosome. It is caused by lack of activity of the lysosomal enzyme iduronate-2-sulfatase, encoded by the IDS gene. Plasma iduronate-2-sulfatase enzymatic activity was measured and the IDS gene in genomic DNA was analyzed by automated direct sequencing. The enzyme activity was 1.2 _mol/l/h (reference value: >2 _mol/l/h) and molecular analysis detected the mutation c.1403G>A (p.R468Q), confirming the diagnosis of MPS II. rice field. In conclusion, there are few groups dedicated to this disease family here in Mexico, highlighting the need to form an expert team of physicians and scientists dedicated to inborn errors of metabolism to stay up to date.
Mucopolysaccharidosis, Hunter syndrome, Turner syndrome, Iduronate 2-sulfatase, IDS gene
International Journal of Trend in Scientific Research and Development - IJTSRD having
online ISSN 2456-6470. IJTSRD is a leading Open Access, Peer-Reviewed International
Journal which provides rapid publication of your research articles and aims to promote
the theory and practice along with knowledge sharing between researchers, developers,
engineers, students, and practitioners working in and around the world in many areas
like Sciences, Technology, Innovation, Engineering, Agriculture, Management and
many more and it is recommended by all Universities, review articles and short communications
in all subjects. IJTSRD running an International Journal who are proving quality
publication of peer reviewed and refereed international journals from diverse fields
that emphasizes new research, development and their applications. IJTSRD provides
an online access to exchange your research work, technical notes & surveying results
among professionals throughout the world in e-journals. IJTSRD is a fastest growing
and dynamic professional organization. The aim of this organization is to provide
access not only to world class research resources, but through its professionals
aim to bring in a significant transformation in the real of open access journals
and online publishing.