Premium
MILD AND SEVERE PKU. COMPARATIVE STUDIES IN TWO INFANTS
Author(s) -
HJALMARSSON O.,
JAGENBURG R.,
RODJER S.
Publication year - 1971
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1971.tb06611.x
Subject(s) - hyperphenylalaninemia , medicine , phenylalanine , pediatrics , phenylpyruvic acid , endocrinology , gastroenterology , biochemistry , amino acid , chemistry
Summary Two infants with hyperphenylalaninemia first recognized at the age of 5 days were studied. One of the patients was a case of classical severe PKU. The other patient, on an unrestricted diet, showed only a slow rise in the plasma phenylalanine level amounting to 16 mg/100 ml at 3 weeks of age and had no phenylpyruvic aciduria. The plasma phenylalanine levels of the two infants were determined during fasting, after feeding and after intravenous phenylalanine loading. The results obtained did not reveal any significant difference in the phenylalanine turn over between the two infants.