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An Evaluation of the Light-Sensitive and Pigmentary Characteristics of Seventeen Patients

C. WALTER HASSEL, Jr., M.D.; LOUIS A. BRUNSTING, M.D.

AMA Arch Derm. 1959;79(4):458-465.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Phenylpyruvic oligophrenia¹ is a rare, inherited, metabolic fault that appears first in childhood. It involves inability to convert properly the essential amino acid, phenylalanine, into tyrosine and is associated with excretion of phenylpyruvic acid and other abnormal metabolites in the urine. Affected persons are invariably mentally deficient or idiotic^2-6 and are almost uniformly blond, light-skinned, and blue-eyed.^3,5,7 The etiologic relationship to mental deficiency is unexplained⁶; the relationship to blondness is thought to lie in the inability to convert phenylalanine properly into tyrosine in the process of forming melanin. Certain peculiarities of the skin also have been described in association with phenylketonuria, but this paper is chiefly concerned with the pigmentary aspects of the disorder.

In 1934, Fölling,⁸ of Norway, first described the presence of phenylpyruvic acid in the urine of certain mentally defective patients. A characteristic deep green color appeared . . . [Full Text PDF of this Article]

Author Affiliations
Rochester, Minn.

Footnotes
Submitted for publication Aug. 27, 1958.

Abridgment of portion of thesis submitted by Dr. Hassel to the Faculty of the Graduate School of the University of Minnesota, in partial fulfillment of the requirements for the degree of Master of Science in Dermatology.

Mayo Clinic and Mayo Foundation. The Mayo Foundation, Rochester, Minn., is a part of the Graduate School of the University of Minnesota. Work done while a Fellow in Dermatology, Mayo Foundation, now residing in Lancaster, Pa. (Dr. Hassel); Section of Dermatology (Dr. Brunsting).

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