Many disease entities are known in which the body's manner of handling amino acids is not normal. In some of these entities, more than one amino acid is involved in the deviation from normal, and usually a renal mechanism breakdown is of primary or secondary importance in etiology or pathogenesis. In other diseases, one amino acid only is involved, and a specific defect at one of the steps in the chain of metabolic reactions that this amino acid usually goes through can be identified and incriminated etiologically. Both of these types of aminoacid-involving disorders can occur without skin changes and with skin changes. Thus, four groups of diseases may be demarcated from these considerations for our purely descriptive purposes, and these groups of diseases will be described now.
Diseases With More Than One Amino Acid Involvement and Without Skin Changes.—
In muscular dystrophy and myotonia dystrophica,1 an increase
ROWE L. Essential Amino Acids and Disease Processes: I. Psoriasis and Pityriasis Rubra Pilaris. AMA Arch Derm. 1960;81(3):405–414. doi:10.1001/archderm.1960.03730030063010
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