乳幼児に主に影響を与える進行性の神経学的劣化を引き起こす遺伝性疾患。

A genetic disorder that primarily affects infants, causing progressive neurological deterioration.

a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood

東欧のユダヤ系の人々に最も頻繁に発生する脂質代謝の遺伝性疾患。神経組織に脂質が蓄積し、幼少期に死亡に至る。