source: International journal of ophthalmology

year: 2021

authors: Liu Y,Dai L,Long R,Quan F,Gu C,Yu L

MPS I is a metabolic disease that involved in the degradation of glycosaminoglycan (GAG). It causes a deficiency of the lysosomal enzyme a-L-iduronidase (IDUA) via a pathogenic mutation in the IDUA gene, which is situated on chromosome 4p16.3 and contains 14 exons and encodes a 653 amino-acid-long polypeptide. This condition causes the accumulation of dermatan heparan sulfate (DS) and heparan sulfate (HS) in cells in most tissues, which leads to progressive multiorgan dysfunction.

The common symptoms include characteristic coarse facial features, joint stiffness, corneal clouding, hepatosplenomegaly, hearing loss, heart disease, respiratory infection, and a reduced lifespan. MPS I is now likely to be described as attenuated MPS I (mild clinical manifestations and a normal life span) or severe MPS I (severe central nervous system complications and a short life span). In accordance with the Declaration of Helsinki, informed consent was obtained from the patient before the study. This study was approved by the Institutional Review Board of the Southwest Medical University

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