Amino acids are involved in many systemic disease processes and also in various disorders where the skin presents most or all of the pathology.1
The intermediary metabolism of amino acids consists of a series of well-defined chemical reactions. Each reaction is catalyzed and controlled by a system of enzymes, and these enzymes are made by tissue cells in a manner related to genes and heredity. If such an enzyme system is lacking or defective, this constitutes an inborn error of metabolism and can bring about profound changes in the normal metabolic chain of reactions, with utilization of alternate and unusual metabolic pathways and accumulation of disease-producing metabolites.
With phenylalanine, enzymatic defects, metabolic blocks, and accumulation of toxic metabolites occur at 3 separate steps in the usual metabolic reaction chain, resulting in 3 separate disorders-phenylpyruvic oligophrenia, alkaptonuria, and tyrosinosis. Also, specific enzymatic blocks in metabolism of other amino acids are
ROWE L. Essential Amino Acids and Disease Processes: II. Psoriasis and Pityriasis Rubra Pilaris. Arch Dermatol. 1960;82(6):948–950. doi:10.1001/archderm.1960.01580060102015
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