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Titolo:
Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuria
Autore:
Rupp, A; Kreis, R; Zschocke, J; Slotboom, J; Boesch, C; Rating, D; Pietz, J;
Indirizzi:
Univ Heidelberg Hosp, Dept Pediat Neurol, D-69120 Heidelberg, Germany UnivHeidelberg Hosp Heidelberg Germany D-69120 9120 Heidelberg, Germany Univ Bern, Dept Clin Res, Unit Magnet Resonance Spect & Methodol, CH-3012 Bern, Switzerland Univ Bern Bern Switzerland CH-3012 & Methodol, CH-3012 Bern, Switzerland Univ Heidelberg Hosp, Dept Gen Pediat, D-69120 Heidelberg, Germany Univ Heidelberg Hosp Heidelberg Germany D-69120 9120 Heidelberg, Germany
Titolo Testata:
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
fascicolo: 3, volume: 21, anno: 2001,
pagine: 276 - 284
SICI:
0271-678X(200103)21:3<276:VOBROP>2.0.ZU;2-R
Fonte:
ISI
Lingua:
ENG
Soggetto:
MAGNETIC-RESONANCE SPECTROSCOPY; H-1 MR SPECTROSCOPY; IN-VIVO; TREATED PHENYLKETONURIA; TRANSPORT; BARRIER; MUTATIONS; ADULTS;
Keywords:
phenylketonuria; proton magnetic resonance spectroscopy phenylalanine; blood-brain barrier; intelligence;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Rupp, A Univ Heidelberg Hosp, Dept Pediat Neurol, Neuenheimer Feld 150, D-69120 Heidelberg, Germany Univ Heidelberg Hosp Neuenheimer Feld 150 Heidelberg Germany D-69120
Citazione:
A. Rupp et al., "Variability of blood-brain ratios of phenylalanine in typical patients with phenylketonuria", J CEREBR B, 21(3), 2001, pp. 276-284

Abstract

Blood-brain ratios (BBR) of phenylalanine (Phe) were determined by quantitative in vivo H-1 magnetic resonance spectroscopy (H-1-MRS) in 17 adult patients with early-treated phenylketonuria who were randomly selected from a sample of 75 adults. Measurements were performed in all patients during steady-state conditions. The BBR showed a unimodal distribution with a mean of4.0 (range 3.3 to 4.5). Blood-brain ratios were comparable for subgroups of patients with genotypes classified as severe, moderate, or mild and for patients on different types of diets. Brain Phe concentrations showed a strong linear correlation with blood Phe values (r = 0.93, P < 0.001). There were no saturation effects for Mead Phe Values up to 1.8 mmol/L, and a local regression analysis did not confirm increasing BBR for increasing blood Phevalues. The intellectual outcome (Wechsler Adult Intelligence Scale) was correlated with long term dietary control (r = -0.65, P < 0.05), fluctuationof blood Phe values during treatment (r = -0.60, P < 0.05), and concurrentblood and brain Phe concentration. The severity of white matter changes Visible on magnetic resonance images (MRI) was increased with high blood and brain Phe concentrations but failed to reach statistical significance. No correlation was found between BBR values, intelligence quotient, and MRI grade. Based on the assumption that BBR show intraindividual stability, the current data do not support the hypothesis that blood-brain barrier transportof Phe is a key explanatory factor for outcome variability in the vast majority of "typical" patients with phenylketonuria.

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Documento generato il 05/04/20 alle ore 07:01:32