その他のアミノ酸代謝異常と中枢神経障害

Metabolic Abnormalities of the Other Amino Acids, in Related to the Disturbance in the Central Nervous System

はじめに

　最近，ペーパークロマトグラフィー，薄層クロマトグラフィー，さらに自動分析法などの手技が臨床面に応用されるようになりつぎつぎと新しいアミノ酸代謝異常症が発見されている。これらアミノ酸代謝異常はいずれも多かれ少なかれ生後間もなく中枢神経症状を以て始まりやがて知能障害におちいるという点において共通した特徴が認められる。

　フェニールアラニン，チロジン，トリプトファン，ヒスチジン，プロリンなどの代謝異常に関しては，すでにほかの担当者が述べられているので，それ以外のアミノ酸代謝異常について，最近の知見をひもどいてみたい。

Recent advance in inborn errors of meta-bolism of amino acid, including glycinc, bran-ched-chain amino acids, and sulphur-containingamino acids, were reviewed. This consists ofidiopathic hyperglycinemia, maple sugar urinedisease, idiopathic hypervalinemia, leucine-induced hypoglycemia, cystinosis, cystathion-inuria, homocystinuria etc.

In addition, metabolic errors involved inurea cycle, such as argininosuccinic aciduria,citrullinemia and hyperammoninemia, and me-tabolic disorders accompanied with generali-zed aminoaciduria, such as Pain's syndrome,Lowe's syndrome and Joseph's syndrome,were referred.

Most of these disorders were characterizedby the disturbance in the central nervoussystem. Some possible mechanisms were dis-cussed concerning the relation between abnor-malities of amino acid and disturbance in thecentral nervous system.