Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Change of Chitotriosidase activity in Gaucher Patients by Enzyme Replacement Therapy

Caucher 환자의 효소 대치요법에 따른 Chititriosidase 활성도 변화

  • YOO, Han Wook (Department of Pediatrics, Medical Genetics Clinic and Laboratory, College of Medicine, University of Ulsan) ;
  • IM, Dae Seong (Institute of Metabolism, Green Cross Reference Laboratory) ;
  • YANG, Song Hyun (Institute of Metabolism, Green Cross Reference Laboratory)
  • 유한욱 (울산대학교 의과대학 소아과) ;
  • 임대성 (녹십자의료재단 대사의학연구소) ;
  • 양송현 (녹십자의료재단 대사의학연구소)
  • Published : 2006.07.15
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Abstract

Gaucher disease is an inherited disorder due to a deficiency in the activity of glucocerebrosidase (EC. 3.2.1.45) by genetic mutation which resulted from missense, nonsense, frameshift, deletion in long arm 21 of chromosome 1 (1q21). Gaucher disease is classified into the main three types as type 1 (nonneuronopathic), type 2 (acute neuronopathic) and type 3 (subacute neuronopathic) according to the progressive phase of manifestations and nervous system involvement. Gaucher disease patients had been treated by using the method as splenectomy and bone marrow transplantation. But enzyme replacement therapy as a more effective treatment has been available since the early 1990's. In order to treat Gaucher disease efficiently by using ERT, it is necessary to chase the progress of the therapy. In this study, therefore, we tried to chase the progress of the ERT by using the measurement of chitotriosidase activity in Gaucher disease patients.

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