Abstract
The clinical manifestations of amino acid and organic acid metabolic disorders vary from few or no symptoms to serious and fatal diseases. Many of these disorders affect the nervous system, and mental retardation is a major finding. Others are associated with acute metabolic crisis. Simple diagnostic tests and effective treatment are available for many of these disorders and early intervention may prevent some of the clinical symptoms. The opportunities for prenatal diagnosis continue to increase in parallel with technological refinements (see Table I). Several recent books offer extensive reviews (Schulman and Simpson, 1981; Stanbury et al, 1983; V. C. Kelley et al., 1984; Nyhan, 1984).
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© 1986 Aubrey Milunsky
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Shih, V.E., Mandell, R., Milunsky, A. (1986). Disorders of the Metabolism of Amino Acids and Related Compounds. In: Milunsky, A. (eds) Genetic Disorders and the Fetus. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5155-9_9
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