Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Treatment and management of patients with inherited metabolic diseases

유전성 대사질환의 치료 및 관리

  • Lee, Jin-Sung (Department of Clinical Genetics, Yonsei University College of Medicine)
  • 이진성 (연세대학교 의과대학 임상유전학과)
  • Received : 2006.10.10
  • Accepted : 2006.10.30
  • Published : 2006.11.15
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Abstract

Inherited metabolic disease is rare disorders that show symptoms mainly in pediatric age and early treatment is important for preventing complications of the disease. Recent development in molecular and biochemical techniques help clinicians with proper diagnosis of patients, however, many of the disease still remain lack of effective therapeutic strategies. Better understanding on biochemical and molecular basis of pathogenesis of the disease combined with advanced medical care would provide new sight on the disease that can also improve the quality of life and long-term prognosis of patients. Traditionally, there are several modalities in the treatment of metabolic diseases depend on the biochemical basis of the disease such as diet restriction, removing or blocking the production of toxic metabolites, and stimulating residual enzyme activity. The inherited metabolic disease is not familiar for many clinicians because the diagnosis is troublesome, treatment is complicated and prognosis may not as good as expected in other diseases. Recently, new therapeutic regimens have been introduced that can significantly improve the medical care of patients with metabolic disease. Enzyme replacement therapy has showed promising efficacy for lysosomal storage disease, bone marrow transplantation is effective in some disease and gene therapy has been trying for different diseases. The new trials for treatment of the disease will give us promising insight on the disease and most clinicians should have more interest in medical progress of the metabolic disease.

Keywords

References

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