I-細胞疾病
I-細胞疾病是一種遺傳病,其會導致溶小體酵素的缺失,引起細胞結構不正常。
I-cell disease | |
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Mannose-6-phosphate (M6P). I-cell disease involves a failure to add M6P to proteins. | |
类型 | rare genetic developmental defect during embryogenesis[*]、lysosomal storage disease with skeletal involvement[*]、mucolipidosis[*]、疾病 |
分类和外部资源 | |
醫學專科 | 內分泌學 |
ICD-10 | E77.0 |
OMIM | 252500 |
DiseasesDB | 29175 |
eMedicine | 945460 |
Orphanet | 576 |
此遺傳病的發生率未知,荷蘭研究指出約為640000分之1。
遺傳方面,其遺傳方式為體染色體隱性遺傳疾病。
參考資料
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