Literature DB >> 478540

Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level?

O Thalhammer, G Lubec, H Königshofer.   

Abstract

Intracellular phenylalanine and tyrosine was determined in lymphocytes of 10 heterozygotes (parents) for PKU and in 26 randomly collected apparently normal persons. In cells from the heterozygotes the concentrations of both phenylalanine and tyrosine were higher than in those from the normals, the difference being statistically highly significant. It is argued that this could be responsible for the slight, though statistically significant, intellectual inferiority of heterozygotes for PKU.

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Year:  1979        PMID: 478540     DOI: 10.1007/bf00569353

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  6 in total

1.  [The IQ of heterozygotes for phenylketonuria (PKU). indication of a blood phenylalanine-independent action of the PKU mutant (author's transl)].

Authors:  O Thalhammer; L Havelec; E Knoll; E Wehle
Journal:  Wien Klin Wochenschr       Date:  1977-10-28       Impact factor: 1.704

2.  Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g.

Authors:  A Böyum
Journal:  Scand J Clin Lab Invest Suppl       Date:  1968

3.  Genetic failure of fetal amino acid "justification": a common basis for many forms of metabolic, nutritional, and "nonspecific" mental retardation.

Authors:  S P Bessman
Journal:  J Pediatr       Date:  1972-10       Impact factor: 4.406

4.  A lithium buffer system for accelerated single-column amino acid analysis in physiological fluids.

Authors:  C P Kedenburg
Journal:  Anal Biochem       Date:  1971-03       Impact factor: 3.365

5.  Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?

Authors:  O Thalhammer; L Havelec; E Knoll; E Wehle
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

6.  Phenylalanine metabolism and intellectual functioning among carriers of phenylketonuria and hyperphenylalaninaemia.

Authors:  R C Ford; J L Berman
Journal:  Lancet       Date:  1977-04-09       Impact factor: 79.321

  6 in total
  8 in total

1.  Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy.

Authors:  H Kohn; P Manowitz; M Miller; A Kling
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

2.  Neurobiological approaches in human behavior genetics.

Authors:  F Vogel
Journal:  Behav Genet       Date:  1981-03       Impact factor: 2.805

3.  Biochemical, genetic, psychometric, and neuropsychological studies in heterozygotes of a family with globoid cell leucodystrophy (Krabbe's disease).

Authors:  H Christomanou; S Jaffé; J Martinius; C Cáp; K Betke
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals.

Authors:  O Thalhammer; G Lubec; H Königshofer; S Scheibenreiter; H Coradello
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  Phenylketonuria (PKU) and the single gene: an old story retold.

Authors:  R M Murphey
Journal:  Behav Genet       Date:  1983-03       Impact factor: 2.805

6.  Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria (PKU) compared with 26 normals.

Authors:  O Thalhammer; A Pollak; G Lubec; H Königshofer
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses. Preliminary results.

Authors:  H Christomanou; J Martinius; S Jaffé; K Betke; C Förster
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

8.  The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients.

Authors:  P Propping; W Friedl; M Huschka; K H Schlör; F Reimer; M Lee-Vaupel; E Conzelmann; K Sandhoff
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

  8 in total

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