The Tohoku Journal of Experimental Medicine
Online ISSN : 1349-3329
Print ISSN : 0040-8727
ISSN-L : 0040-8727
Two Siblings of Hyperphenylalaninemia: Suggestion to a Genetic Variant of Phenylketonuria
Keiya Tada, Toshio Yoshida, Keiko Mochizuki, Tasuke Konno, Hiroshi Nakagawa, Yoshimasa Yokoyama, Goro Takada, Tsuneo Arakawa
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1970 年 100 巻 3 号 p. 249-253

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A sibling case of hyperphenylalaninemia without phenylpyruvic aciduria was described. An oral loading of phenylalanine revealed a delay of clearance of serum phenylalanine, a slight elevation of serum tyrosine, and an increased urinary excretion of phenylpyTuvic acid and o-hydroxyphenylacetic acid. Phenylalanine hydroxylase in the liver was found to be of about one-tenth the normal activity.
These findings suggest that hyperphenlyalaninemia may be a genetic variant of phenylketonuria.
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    The Tohoku Journal of Experimental Medicine (TJEM) was founded in 1920 by professors of Tohoku Imperial University, Medical School. The TJEM has been published continuously, except for the year of 1946 just after the World War II. The TJEM is open to original articles in all branches of medical sciences. The TJEM also covers the fields of disaster-prevention science, including earthquake archeology.


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