Abstract
Major advances have been made in the elucidation of the molecular pathologies of inherited metabolic diseases during the past two decades. The clinical and pathophysiologic manifestations have been delineated and the metabolic derangements have been characterized in an ever-increasing number of these myriad disorders.1–2 Sophisticated chemical and enzymatic techniques as well as in vitro tissue culture systems have been developed to identify the specific enzymatic defects in more than 150 of the over 400 catalogued, recessively inherited, inborn errors of metabolism.2 Implementation of these techniques in major centers has made the diagnosis of these disorders a reality. Indeed, the demonstration of the specific enzymatic deficiency has provided for the accurate diagnosis of affected homozygotes or hemizygotes, detection of heterozygous carriers, and the capability to prenatally diagnose and prevent the birth of affected fetuses. However, in spite of these major diagnostic achievements, patients and their families have become increasingly disappointed by the absence of specific therapies for most of these debilitating disorders.
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References
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Desnick, R.J., Grabowski, G.A. (1981). Advances in the Treatment of Inherited Metabolic Diseases. In: Harris, H., Hirschhorn, K. (eds) Advances in Human Genetics 11. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-8303-5_5
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DOI: https://doi.org/10.1007/978-1-4615-8303-5_5
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