Literature DB >> 8828619

Care of the adult with phenylketonuria.

R Koch1, C Azen, E G Friedman, K Fishler, C Baumann-Frischling, T Lin.   

Abstract

Forty-three adults with classical phenylketonuria were identified by neonatal screening and treated with a phenylalanine (Phe) restricted diet. Nineteen have remained on dietary treatment with varying levels of blood Phe control and 24 have discontinued the diet at an average age of 7.8 years. Follow up at an average age of 22 years revealed that the cohort remaining on dietary treatment have achieved substantially better social and academic achievement than the 24 who discontinued dietary treatment. Another group of 19 adults who were not diagnosed until an average age of 2.5 years have also been evaluated after an average of 22 years on a Phe restricted diet. This report is based upon Wechsler Adult Intelligence Revised Test scores, attendance at college, employment and marital status.

Entities:  

Mesh:

Year:  1996        PMID: 8828619     DOI: 10.1007/pl00014260

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  8 in total

1.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124

2.  Magnetic resonance imaging changes in early treated patients with phenylketonuria.

Authors:  A J Thompson; I Smith; B E Kendall; B D Youl; D Brenton
Journal:  Lancet       Date:  1991-05-18       Impact factor: 79.321

3.  Malnutrition with early treatment of phenylketonuria.

Authors:  W B Hanley; L Linsao; W Davidson; C A Moes
Journal:  Pediatr Res       Date:  1970-07       Impact factor: 3.756

4.  Neurological deterioration in adult phenylketonuria.

Authors:  D Villasana; I J Butler; J C Williams; S M Roongta
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  Effect of age at loss of dietary control on intellectual performance and behavior of children with phenylketonuria.

Authors:  N A Holtzman; R A Kronmal; W van Doorninck; C Azen; R Koch
Journal:  N Engl J Med       Date:  1986-03-06       Impact factor: 91.245

6.  Estimates of the economic costs of birth defects.

Authors:  N J Waitzman; P S Romano; R M Scheffler
Journal:  Inquiry       Date:  1994       Impact factor: 1.730

7.  Intellectual development in 12-year-old children treated for phenylketonuria.

Authors:  C G Azen; R Koch; E G Friedman; S Berlow; J Coldwell; W Krause; R Matalon; E McCabe; M O'Flynn; R Peterson
Journal:  Am J Dis Child       Date:  1991-01

8.  Neurological deterioration in young adults with phenylketonuria.

Authors:  A J Thompson; I Smith; D Brenton; B D Youl; G Rylance; D C Davidson; B Kendall; A J Lees
Journal:  Lancet       Date:  1990-09-08       Impact factor: 79.321

  8 in total
  5 in total

1.  Rethinking the formula.

Authors:  Roxanne Khamsi
Journal:  Nat Med       Date:  2013-05       Impact factor: 53.440

Review 2.  Current situation and prospects of newborn screening and treatment for Phenylketonuria in China - compared with the current situation in the United States, UK and Japan.

Authors:  Lin Mei; Peipei Song; Norihiro Kokudo; Lingzhong Xu; Wei Tang
Journal:  Intractable Rare Dis Res       Date:  2013-11

3.  Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases.

Authors:  T Mlčoch; R Puda; P Ješina; M Lhotáková; Š Štěrbová; T Doležal
Journal:  Eur J Clin Nutr       Date:  2017-06-28       Impact factor: 4.016

4.  Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes.

Authors:  Erin L MacLeod; Sally T Gleason; Sandra C van Calcar; Denise M Ney
Journal:  Mol Genet Metab       Date:  2009-08-08       Impact factor: 4.797

5.  Social outcome in treated individuals with inherited metabolic disorders: UK study.

Authors:  M Bhat; C Haase; P J Lee
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.750

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.