フェニールケトン尿症の臨症的研究

CLINICAL STUDY ON PHENYLKETONURIA

I．はじめに

　フェニールケトン尿症が本邦で初めて報告されたのは1950年^1）であるが，ここ数年来，本症の報告例が増し，現在までに約90例をかぞえるにいたつた。また低フェニールアラニン食による治療例も増加し24例に達している。とくに低フェニールアラニン食の実施については，何歳まで継続すべきか，その効果はどの程度のものであるかなど検討すべき点もあるので，自験2例をも含めて，文献的考察を加えた。

It is generally accepted that phenylketonuria is rare among coloured people. Tanaka has, however, recently reported that the incidence of phenylketonuria in Japan does not differ from that in Caucasian. A considerable number of reports have accumulated on phenylketonuria in recent years, indicating a growing interest in the study of the disease.

The author reviewed and discussed the symptoma-tology, biochemistry, electroencephalographic findings and treatment method of phenylketonuria on the basis of 79 cases of Japanese phenylketonurics with two personally experienced cases.

There may be a difference in the distribution of IQ between Japanese phenylketonurics and Caucasian ones.

Thus it was 69% for Japanese phenylketonurics, who have IQ above 20, whereas it was 29-34 % for Caucasian patients. Except for the above-described fact, there appeared to be no difference between the two.

The necessity for early diagnosis and treatment with low-phenylalanine diet is again insisted to prevent the mental retardation and EEG abnormality.