Document Detail


Hyperphenylalaninaemia of various types among three-quarters of a million neonates tested in a screening programme.
MedLine Citation:
PMID:  7305413     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A total of 795 382 infants born in north London was screened for phenylketonuria using the Guthrie test between October 1969 and December 1978. During this period it became recognised that phenylketonuria is not a single disease entity but one that encompasses a number of disorders of differing clinical and biochemical severity. The overall incidence of persistent hyperphenylalaninaemia was of the order of 7 per 100 000 births (or 1 in 15 000) and all the early treated patients made normal developmental progress. During the study there was an appreciable fall in the incidence of uncomplicated transient hyperphenylalaninaemia with or without tyrosinaemia. This reduction coincided with the change in infant feeding practice in the UK which led to lower intakes of protein and phenylalanine. It was concluded that any infant found to have a persistent blood phenylalanine concentration of 240 mumol/1 (4 mg/100 ml) or greater should be followed closely.
Authors:
V Walker; B E Clayton; R S Ersser; D E Francis; P Lilly; J W Seakins; I Smith; P D Whiteman
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Archives of disease in childhood     Volume:  56     ISSN:  1468-2044     ISO Abbreviation:  Arch. Dis. Child.     Publication Date:  1981 Oct 
Date Detail:
Created Date:  1982-01-28     Completed Date:  1982-01-28     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0372434     Medline TA:  Arch Dis Child     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  759-64     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Amino Acids / blood
Humans
Infant Food / analysis
Infant, Newborn
London
Mass Screening
Milk Proteins / analysis
Phenylalanine / blood
Phenylketonurias / blood,  epidemiology*,  therapy
Tyrosine / blood
Chemical
Reg. No./Substance:
0/Amino Acids; 0/Milk Proteins; 55520-40-6/Tyrosine; 63-91-2/Phenylalanine
Comments/Corrections

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