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Titolo:
Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia
Autore:
Weglage, J; Pietsch, M; Feldmann, R; Koch, HG; Zschocke, J; Hoffmann, G; Muntau-Heger, A; Denecke, J; Guldberg, P; Guttler, F; Moller, H; Wendel, U; Ullrich, K; Harms, E;
Indirizzi:
Univ Munster, Dept Pediat, D-48129 Munster, Germany Univ Munster MunsterGermany D-48129 pt Pediat, D-48129 Munster, Germany Univ Munster, Dept Clin Radiol, D-48129 Munster, Germany Univ Munster Munster Germany D-48129 in Radiol, D-48129 Munster, Germany Univ Heidelberg, Dept Pediat, D-69120 Heidelberg, Germany Univ HeidelbergHeidelberg Germany D-69120 , D-69120 Heidelberg, Germany Univ Munich, Dept Pediat, D-80337 Munich, Germany Univ Munich Munich Germany D-80337 Dept Pediat, D-80337 Munich, Germany John F Kennedy Inst, DK-2600 Glostrup, Denmark John F Kennedy Inst Glostrup Denmark DK-2600 , DK-2600 Glostrup, Denmark Univ Dusseldorf, Dept Pediat, D-40225 Dusseldorf, Germany Univ DusseldorfDusseldorf Germany D-40225 , D-40225 Dusseldorf, Germany Univ Hamburg, Dept Pediat, D-20246 Hamburg, Germany Univ Hamburg HamburgGermany D-20246 pt Pediat, D-20246 Hamburg, Germany
Titolo Testata:
PEDIATRIC RESEARCH
fascicolo: 4, volume: 49, anno: 2001,
pagine: 532 - 536
SICI:
0031-3998(200104)49:4<532:NCOIUS>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
EARLY-TREATED PHENYLKETONURIA; ATYPICAL PHENYLKETONURIA; SUSTAINED ATTENTION; INTELLIGENCE; CHILDREN; DEFICITS; ADULTS; LEVEL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
30
Recensione:
Indirizzi per estratti:
Indirizzo: Weglage, J Univ Munster, Dept Pediat, Albert Schweitzer Str 33, D-48129 Munster, Germany Univ Munster Albert Schweitzer Str 33 Munster Germany D-48129
Citazione:
J. Weglage et al., "Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia", PEDIAT RES, 49(4), 2001, pp. 532-536

Abstract

There is international consensus that patients with phenylalanine (Phe) levels <360 <mu>M on a free diet do not need Phe-lowering dietary treatment whereas patients with levels >600 muM do. Clinical outcome of patients showing Phe levels between 360 and 600 muM in serum on a free nutrition has so far only been assessed in a small number of cases. Therefore, different recommendations exist for patients with mild hyperphenylalaninemia. We investigated in a nationwide study 31 adolescent and adult patients who persistently displayed serum Phe levels between 360 and 600 muM On a normal nutrition with a corresponding genotype. Because of limited accuracy of measurements,Phe levels should be looked on as an approximation, but not as an absolutelimit in every instance. In addition to serum Phe levels, the assessment program consisted of comprehensive psychological testing, magnetic resonanceimaging of the head, H-1 magnetic resonance spectroscopy, and genotyping. We found a nor mal intellectual (intelligence quotient, 103 +/- 15; range, 79-138) and educational (school performance and job career) outcome in these subjects as compared with healthy control subjects (intelligence quotient, 104 +/- 11; range, 80-135). Magnetic resonance imaging revealed no changes of cerebral white matter in any patient, and 1H magnetic resonance spectroscopy revealed brain Phe levels below the limit of detection (<200 <mu>M). In the absence of any demonstrable effect, dietary treatment is unlikely to be of value in patients with mild hyperphenylalinemia and serum Phe levels <600 <mu>M on a free nutrition, and should no longer be recommended. Because of a possible late-onset pheylketonuria, Phe levels of untreated patients should be monitored carefully at least during the first year of life. Nevertheless, problems of maternal phenylkeconuria should still he taken intoaccount.

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Documento generato il 22/01/20 alle ore 12:27:04