To elucidate properly the progress made in the biochemical genetics of the sphingolipidoses, mucopolysaccharidoses, and glycogenoses within the past decade, this review will describe the associated biochemical defects in relation to each clinical disorder. It has become clear that the autosomal-recessive and X-linked recessive diseases are enzyme-defect disorders, in contrast to the autosomal-dominant disorders, in which the molecular mechanism remains unknown or perhaps is due to structural or receptor-membrane defects. These enzyme defects are described with some care in this review in order to illustrate further the potential presence of allelic and nonallelic mutations involving a given enzyme or biochemical pathway in a given clinical syndrome, to show the degree of possible genetic heterogeneity. Genetic variation in recessively and dominantly inherited diseases is emerging as an important factor. A series of different mutations involving the same enzyme or pathway can produce strikingly different phenotypes; conversely, an inherited clinical phenotype can be due to several different nonallelic genotypes.
|Original language||English (US)|
|Number of pages||13|
|Journal||New England Journal of Medicine|
|Publication status||Published - 1981|
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