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
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-10E77.0
OMIM252500
DiseasesDB29175
eMedicine945460
Orphanet576

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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