Literature DB >> 6655682

Phenylketonuria with normal intelligence.

D A Primrose.   

Abstract

A review was made of the literature with respect to cases of untreated phenylketonuria (PKU) with normal intelligence. Six families were found in which a person with classical PKU and normal intelligence, and a sibling with PKU and severe mental handicap had been reported. Details are given of another similar family, and possible reasons are discussed for the preservation of intelligence in the affected individual with an IQ of 82. Among the reasons proposed are breast feeding, which has a low phenylalanine level and a raised biopterin level, which may help in the production of brain neurotransmitters. Studies of similar cases are suggested.

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Year:  1983        PMID： 6655682     DOI： 10.1111/j.1365-2788.1983.tb00296.x

Source DB:  PubMed          Journal:  J Ment Defic Res        ISSN： 0022-264X


  9 in total

1.  A synopsis of the unconjugated acidic transamination metabolites of phenylalanine in phenylketonuria.

Authors:  U Langenbeck; A Behbehani; A Mench-Hoinowski
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

Review 2.  The genetic contribution to the phenotype.

Authors:  U Wolf
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

3.  Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria.

Authors:  V Leuzzi; M C Bianchi; M Tosetti; C L Carducci; C A Carducci; I Antonozzi
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

4.  Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Authors:  S Kleiman; L Vanagaite; J Bernstein; G Schwartz; N Brand; A Elitzur; S L Woo; Y Shiloh
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

5.  Intellectual development of the patients of the German Collaborative Study of children treated for phenylketonuria.

Authors:  P Burgard; E Schmidt; A Rupp; W Schneider; H J Bremer
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

6.  Phenylketonuria genotypes correlated to metabolic phenotype groups in Norway.

Authors:  H G Eiken; P M Knappskog; K Motzfeldt; H Boman; J Apold
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

7.  Phenylketonuria and some aspects of emotional development.

Authors:  M M Hendrikx; L W van der Schot; F M Slijper; J Huisman; A F Kalverboer
Journal:  Eur J Pediatr       Date:  1994-11       Impact factor: 3.183

8.  Can untreated PKU patients escape from intellectual disability? A systematic review.

Authors:  Danique van Vliet; Annemiek M J van Wegberg; Kirsten Ahring; Miroslaw Bik-Multanowski; Nenad Blau; Fatma D Bulut; Kari Casas; Bozena Didycz; Maja Djordjevic; Antonio Federico; François Feillet; Maria Gizewska; Gwendolyn Gramer; Jozef L Hertecant; Carla E M Hollak; Jens V Jørgensen; Daniela Karall; Yuval Landau; Vincenzo Leuzzi; Per Mathisen; Kathryn Moseley; Neslihan Ö Mungan; Francesca Nardecchia; Katrin Õunap; Kimberly K Powell; Radha Ramachandran; Frank Rutsch; Aria Setoodeh; Maja Stojiljkovic; Fritz K Trefz; Natalia Usurelu; Callum Wilson; Clara D van Karnebeek; William B Hanley; Francjan J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2018-08-29       Impact factor: 4.123

9.  The rs113883650 variant of SLC7A5 (LAT1) gene may alter brain phenylalanine content in PKU.

Authors:  Miroslaw Bik-Multanowski; Kinga Bik-Multanowska; Iwona Betka; Anna Madetko-Talowska
Journal:  Mol Genet Metab Rep       Date:  2021-03-31
  9 in total

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