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Harrison's Principles of Internal Medicine, 18e
| Part 16. Endocrinology and Metabolism > Section 3. Disorders of Intermediary Metabolism > |
Chapter 364. Inherited Disorders of Amino Acid Metabolism in Adults
Sections: Inherited Disorders of Amino Acid Metabolism in Adults: Introduction, The Hyperphenylalaninemias, The Homocystinurias (Hyperhomocysteinemias), Alkaptonuria, Urea Cycle Defects, Further Readings.
Topics Discussed: amino acid metabolism, inborn errors.
Excerpt:"Amino acids are not only the building blocks of proteins but also serve as neurotransmitters (glycine, glutamate,  -aminobutyric acid) or as precursors of hormones, coenzymes, pigments, purines, or pyrimidines. Eight amino acids, referred to as essential, cannot be synthesized by humans and must be obtained from dietary sources. The others are formed endogenously. Each amino acid has a unique degradative pathway by which its nitrogen and carbon components are used for the synthesis of other amino acids, carbohydrates, and lipids. Disorders of amino acid metabolism and transport (Chap. 365) are individually rare—the incidences range from 1 in 10,000 for cystinuria or phenylketonuria to 1 in 200,000 for homocystinuria or alkaptonuria—but collectively they affect perhaps 1 in 1,000 newborns. Almost all are transmitted as autosomal recessive traits...."
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