I-cell disease

...A genetic disorder is a condition in which a genetic abnormality causes a congenital disorder (usually an enzyme disorder) somewhere in the body's metabolic process, resulting in clinical symptoms due to some kind of metabolic abnormality.
[History of inborn errors of metabolism]
The concept of congenital metabolic disorders was proposed in 1908 by British physician A. Garrod. He listed four diseases in which abnormal substances are excreted in the urine in an increased manner: cystinuria, alkaptonuria, pentose uria, and albinism. He believed that these diseases were likely congenital (genetic) defects in certain metabolic processes because they often occurred within families and the increase in abnormal substances in the urine did not change throughout one's life.

*Some of the terms that refer to "I-Sell disease" are listed below.

Source | Heibonsha World Encyclopedia 2nd Edition | Information

…遺伝子の異常によって先天的に生体内の物質代謝過程のどこかに障害(酵素障害が多い)が生じ，なんらかの代謝異常状態による臨床症状を示す疾患をいう。
［先天性代謝異常の歴史］
　先天性代謝異常の概念は1908年イギリスの内科医ギャロッドA.Garrodによって提唱された。彼は，尿中に異常物質の排出が増加するシスチン尿症，アルカプトン尿症，五炭糖尿症と白皮症の4疾患をあげ，家族内発生が多いこと，尿中異常物質増加が終生変化しないことから特定の代謝過程の先天性(遺伝的)欠陥であろうと考えたのである。…

※「アイ・セル病」について言及している用語解説の一部を掲載しています。

出典｜株式会社平凡社世界大百科事典 第２版について | 情報