Document Detail

The diagnosis of phenylketonuria: a report from the Collaborative Study of Children Treated for Phenylketonuria.
MedLine Citation:
PMID:  7405915     Owner:  NLM     Status:  MEDLINE    
One hundred ninety-five infants who met diagnostic criteria for enrollment in the Collaborative Study of Children Treated for Phenylketonuria (PKU) underwent a standard three-day challenge with 180 mg/kg/day of phenylalanine for confirmation of diagnosis. A sustained rise in serum phenylalanine levels of greater than 20 mg/dl was observed in 166 infants (85.1%), compatible with the diagnosis of classical PKU. In the remaining 29 infants (14.9%), the serum phenylalanine concentration either did not reach 20 mg/dL or, having achieved this level, subsequently declined below this point by 72 hours. It was agreed that these 29 patients had variant PKU and they were dropped from the Collaborative Study. We recommend that all infants diagnosed as having classic PKU undergo a challenge to confirm the diagnosis and need for continued treatment.
M E O'Flynn; N A Holtzman; M Blaskovics; C Azen; M L Williamson
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of diseases of children (1960)     Volume:  134     ISSN:  0002-922X     ISO Abbreviation:  Am. J. Dis. Child.     Publication Date:  1980 Aug 
Date Detail:
Created Date:  1980-10-27     Completed Date:  1980-10-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0370471     Medline TA:  Am J Dis Child     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  769-74     Citation Subset:  AIM; IM    
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MeSH Terms
Infant, Newborn
Phenylalanine / blood*,  diagnostic use
Phenylketonurias / diagnosis*,  diet therapy
Time Factors
Tyrosine / blood
Reg. No./Substance:
55520-40-6/Tyrosine; 63-91-2/Phenylalanine

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

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