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INTRODUCTION

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The introduction of amino acid analysis to clinical diagnostic practice during the 1960s led to the discovery of multiple disorders of amino acid catabolism, transport, and synthesis. Most have been described in detail in the preceding chapters. A few remaining disorders of amino acid modification or salvage are presented in Table 140-1.

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Table 140-1Miscellaneous Disease-Causing Genetic Disorders of Amino Acid Metabolism
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Amino acid analysis was initially targeted to subjects with unexplained symptoms, often neurologic in nature. Due to this ascertainment bias, a few of the newly described disorders were initially believed to cause disease before their benign nature was recognized. The most prominent example is histidinemia, which is relatively common and was included in universal newborn screening programs for many years. Other examples of apparently benign biochemical phenotypes are listed in Table 140-2.

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Table 140-2Genetic Disorders of Amino Acid Metabolism With Doubtful Clinical Significance

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