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 Volume 100 Issue 3 Pages 249-253

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Abstract

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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