Document Detail

Absent phenylalanine hydroxylase activity without phenylketonuria.
MedLine Citation:
PMID:  7408915     Owner:  NLM     Status:  MEDLINE    
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.
M Yudkoff; S Segal
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  134     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1980 Jun 
Date Detail:
Created Date:  1980-11-20     Completed Date:  1980-11-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  85-6     Citation Subset:  IM    
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MeSH Terms
Breast Feeding
Child Development
Liver / enzymology*
Phenylalanine / blood
Phenylalanine Hydroxylase / deficiency*
Reg. No./Substance:
63-91-2/Phenylalanine; EC Hydroxylase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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