• 제목/요약/키워드: Inherited disease

검색결과 473건 처리시간 0.024초

발달의 퇴행을 보여 진단된 제2형 GM1 gangliosidosis 1례 (Type 2 GM1 Gangliosidosis Presented with Developmental Regression: A Case Report)

  • 고정민;조태준;채종희
    • 대한유전성대사질환학회지
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    • 제14권2호
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    • pp.182-185
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    • 2014
  • GM1 gangliosidosis is a rare autosomal recessively inherited metabolic disease due to deficiency of ${\beta}$-galactosidase caused by mutations in the GLB1 gene. There have been three clinical subgroups in GM1 gangliosidosis, however it is difficult to differentiate because there is considerable overlap between classical phenotypes and clinical and imaging findings among the subgroups. Here, we report a Korean girl with type 2 GM1 gangliosidosis, who showed dysostosis multiplex and progressive neurological deterioration. Developmental regression was first noted at the age of 9 months, and she was diagnosed as GM1 gangliosidosis by ${\beta}$-galactosidase enzyme analysis and GLB1 mutation analysis at the age of 16 months.

Caucher 환자의 효소 대치요법에 따른 Chititriosidase 활성도 변화 (Change of Chitotriosidase activity in Gaucher Patients by Enzyme Replacement Therapy)

  • 유한욱;임대성;양송현
    • 대한유전성대사질환학회지
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    • 제6권1호
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    • pp.58-62
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    • 2006
  • 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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