Literature DB >> 3761073

A simple method for detection of heterozygous carriers of the gene for classic phenylketonuria.

M A Hilton, J N Sharpe, L G Hicks, B F Andrews.   

Abstract

Plasma phenylalanine (Phe) and tyrosine (Tyr) concentrations were measured by high-performance liquid chromatography in arteriolar blood obtained by finger prick from 78 normal volunteers and 36 heterozygote carriers of phenylketonuria (PKU). Subjects were tested at midday, 3 to 4 hours after their breakfast. Values for the micromolar ratio of Phe/Tyr and Phe2/Tyr for control subjects fell below 1.2 and 80, respectively; values for all carriers of PKU were higher for one or both ratios. This method should be applicable to widespread screening of the general population for carriers of the gene for PKU.

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Year:  1986        PMID： 3761073     DOI： 10.1016/s0022-3476(86)80220-7

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  6 in total

1.  Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.

Authors:  Rachael Sharman; Karen A Sullivan; Ross McD Young; James J McGill
Journal:  J Inherit Metab Dis       Date:  2010-09-30       Impact factor: 4.982

2.  A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients.

Authors:  S Kaufman
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-16       Impact factor: 11.205

3.  Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes.

Authors:  E Svensson; L Iselius; L Hagenfeldt
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Heterozygous carriers of classical phenylketonuria in a sample of the Turkish population: detection by a spectrofluorimetric method.

Authors:  F Güneral; I Ozalp; H Tatlidil
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

5.  Improved identification of heterozygotes for phenylketonuria using blood neopterin and biopterin.

Authors:  T Alós; Y Bel; M L Cabello; J L Catalá; J Dalmau; J Ferré; A M García; P Ruiz-Vázquez
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

6.  Phenylketonuria: distribution of DNA diagnostic patterns in German families.

Authors:  C Aulehla-Scholz; M Vorgerd; E Sautter; D Leupold; R Mahlmann; K Ullrich; K Olek; J Horst
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132
  6 in total

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