先天性代謝異常症

Inborn Error of Metabolism

先天性代謝異常症は基本的に単一遺伝子病であり，アミノ酸・有機酸・脂肪酸・糖脂質・複合糖質・糖蛋白・金属などの代謝異常によりさまざまな症候をきたし，神経症状を発現するものも多い。小児期の発症が多いが，成人発症も報告されている疾患が多い。診断・治療技術に長足の進歩がみられ，スクリーニングによる早期発見，食事療法，酵素補充療法などの治療法の開発が進んでいる。

Abstract

Inborn errors of metabolism are single-gene disorders in which metabolic abnormalities involving amino acids, organic acids, fatty acids, glycolipids, complex carbohydrates, glycoproteins, and metals cause various neurological symptoms. Although most cases occur in childhood, many diseases have been reported to have adult onset. Significant progress has been made in diagnostic and therapeutic techniques, with early detection through screening and the development of treatments, such as dietary therapy and enzyme replacement therapy.