Inborn errors of sphingolipid metabolism.
نویسنده
چکیده
I T is my intent to gather together facts pertaming to the lipidoses which might serve to focus on current problems and to call attention to possible therapeutic approaches. The particular lipidoses to be discussed involve the accumulation in tissues of sphingolipids and may be referred to as sphingolipidoses. They may be classified as “inborn errors of sphingolipid metabolism” on the basis that they are determined by single factor inheritance and that sphingolipid metabolism is apparently not normal. From what we know of inborn errors it is a reasonable hypothesis that a single basic enzymatic defect is present in each disorder. The identification of these might stimulate a more rational approach to therapy, which is pitifully inadequate for these conditions at present. Four principal conditions will be considered : Gaucher’s disease, Niemann-Pick disease, amaurotic family idiocy and familial leucodystrophy.
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عنوان ژورنال:
- The American journal of clinical nutrition
دوره 9 شماره
صفحات -
تاریخ انتشار 1961