Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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Long-Term Clinical Course of a Korean Patient with Chronic Neuropathic (type III) Gaucher Disease

  • Lee, Jun Hwa (Department of Pediatric Neurology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
  • Received : 2019.09.19
  • Accepted : 2019.10.28
  • Published : 2019.10.31
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Abstract

Gaucher disease (GD) is an autosomal recessive inborn error of metabolism resulting from a deficiency in ${\beta}$-glucocerebrosidase (GBA) activity that leads to the accumulation of glucocerebroside in macrophages in multiple organs, such as the bone marrow, liver, spleen, and brain. GD can be classified into three clinical types: type 1 (non-neuropathic form, OMIM #230800); type II (acute neuropathic form, OMIM #230900); and type III (chronic neuropathic form, OMIM #231000). Type III is the subacute form of neuropathic GD. The best available treatment for GD is long-term enzyme (imiglucerase) replacement therapy (ERT) performed every two weeks. This report describes the long-term clinical course of a patient with type III GD who was treated with ERT for 18 years.

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References

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