Electronic Resource
Springer
European journal of pediatrics
134 (1980), S. 85-86
ISSN:
1432-1076
Keywords:
Phenylketonuria
;
Phenylalanine hydroxylase
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract A male infant is described who never manifested phenylketonuria even though phenylalanine hydroxylase activity was undetectable in liver tissue. Plasma phenylalanine were elevated in the range typical of PKU patients when the baby was at breast and declined with institution of a low phenylalanine diet. Physical and psychomotor development were normal with the baby on the latter treatment. The results indicate that the absence of phenylketonuria does not rule out phenylalanine hydroxylase activity.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442409
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