Diagnosis and treatment trends in mucopolysaccharidosis Ⅰ
Mucopolysaccharidosis type Ⅰ is a rare and life-threating autosomal recessive disease caused by the deficiency of α-L-iduronidase,resulting in the accumulation of heparan sulfate and dermatan sulfate in the body,leading to progressive multiple organs dysfunction.The diagnosis of MPS type Ⅰ is based on the quantification of α-l-iduronidase coupled with clinical manifestations,glycosaminoglycan analysis and gene sequencing.Newborn screening is now allowing the early identification of MPS Ⅰ patients.The current treatment options are mainly allogeneic hematopoietic stem cell transplantation,enzyme replacement therapy and symptomatic treatment.Gene therapy is under development.
国家科技期刊平台
NSTL
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