Biochemistry of Amino Acids - A. Majster 1961

Disorders of Amino Acid Metabolism in Certain Pathological Conditions
Phenylalanine and Tyrosine Metabolism
General Remarks

Several human diseases are known to be associated with hereditary disorders of Tyrosine and phenylalanine METABOLISM. Along with others discussed in the previous section, these conditions belong to "inborn errors of metabolism." Garrod was the first to suggest that such "metabolic errors" stem from an inherited inability of the Organism to carry out a specific intermediate reaction in the normal chain of sequential metabolic transformations [107]. The inheritance of these diseases is typically recessive. Therefore, patients suffering from these abnormalities can be considered human mutants, by analogy with mutants obtained in microorganisms, such as Neurospora crassa and Escherichia coli. Unlike mutant microorganisms, in which Metabolic Disorders are usually easily detected by changes in nutritional requirements, identifying Mutations in humans is frequently complicated by The Development of secondary phenomena. Nevertheless, The Study of metabolic mutations in humans has in A number of cases contributed to elucidating normal metabolic pathways.



Last update: 06/08/2026

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