...However, the defective enzymes in lipid metabolism disorders have been confirmed in metachromatic leukodystrophy (arylsulfatase A deficiency) and Krabbe's disease (galactocerebrosidase deficiency). Adrenoleukodystrophy, previously described as Schilder's disease, is also thought to be caused by lipid metabolism disorders. Both are hereditary disorders of young children, and the main clinical features are spastic limb paralysis, convulsions, dementia, or mental retardation, but peripheral nerve myelin is also lost, so reduced peripheral nerve conduction velocity is often observed. ... *Some of the terminology that mentions "adrenoleukodystrophy" is listed below. Source | Heibonsha World Encyclopedia 2nd Edition | Information |
…しかし脂質代謝異常の欠損酵素が確定しているものとしては,異染性白質ジストロフィー(アリルスルファターゼA欠損症)や,クラッベ病Krabbe’s disease(ガラクトセレブロシダーゼ欠損症)などがある。また従来シルダー病Schilder’s diseaseとして記載されていた副腎白質ジストロフィーadrenoleukodystrophyも脂質代謝異常によるものと考えられている。いずれも幼小児の遺伝性疾患で,痙性四肢麻痺,痙攣(けいれん),痴呆または精神遅滞などが臨床像の中核をなしているが,末梢神経の髄鞘も同様に失われるため,末梢神経伝導速度の低下がしばしば認められる。… ※「adrenoleukodystrophy」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 |
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