English Dictionary

Farber disease

固有名詞

A very rare lysosomal storage disease marked by a deficiency in ceramidase that causes an accumulation of lipids, leading to abnormalities in the joints, liver, throat, tissues, and central nervous system.

日本語の意味

Farber病とは、セラミダーゼの欠乏により脂質が体内に蓄積し、関節、肝臓、喉頭、その他の組織や中枢神経系に異常を引き起こす、極めて稀なリソソーム蓄積症です。

After months of misdiagnoses, the child was finally diagnosed with Farber disease, which explained his progressive joint deformities, hoarseness, and neurological decline.

何か月もの誤診の後、その子は最終的にファーバー病と診断され、進行する関節の変形、嗄声、そして神経症状の悪化の原因が説明されました。

意味（1）

A very rare lysosomal storage disease marked by a deficiency in ceramidase that causes an accumulation of lipids, leading to abnormalities in the joints, liver, throat, tissues, and central nervous system.