Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia

G Gramer; P Burgard; S F Garbade; M Lindner

doi:10.1007/s10545-007-0651-6

Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia

Standard

Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia. / Gramer, G; Burgard, P; Garbade, S F; Lindner, M.

in: J INHERIT METAB DIS, Jahrgang 30, Nr. 4, 08.2007, S. 556-562.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Gramer, G, Burgard, P, Garbade, SF & Lindner, M 2007, 'Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia', J INHERIT METAB DIS, Jg. 30, Nr. 4, S. 556-562. https://doi.org/10.1007/s10545-007-0651-6

APA

Gramer, G., Burgard, P., Garbade, S. F., & Lindner, M. (2007). Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia. J INHERIT METAB DIS, 30(4), 556-562. https://doi.org/10.1007/s10545-007-0651-6

Vancouver

Gramer G, Burgard P, Garbade SF, Lindner M. Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia. J INHERIT METAB DIS. 2007 Aug;30(4):556-562. https://doi.org/10.1007/s10545-007-0651-6

Bibtex

@article{c016516ef4b94a35983e087c7a40834f,

title = "Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia",

abstract = "In recent years several studies on tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency have been published. The molecular mechanisms of BH4 responsiveness are not conclusively understood, but there is evidence that BH4 responsiveness in hyperphenylalaninaemia (HPA) depends on the patient's genotype and residual PAH activity. As a BH4 preparation will soon obtain marketing approval as an alternative treatment for phenylketonuria (PKU), it is particularly important to evaluate this treatment and to define criteria to identify patients with a potential benefit from it. Most of the patients found to be BH4-responsive suffered from mild PKU or mild hyperphenylalaninaemia (MHP) and some of these would not be treated at all in many countries. Of patients with moderate and classic forms of PKU, only a few were classified as responders and the clinical significance of the effect size may be small.",

keywords = "Biopterin/analogs & derivatives, Dietary Supplements, Genotype, Humans, Infant, Newborn, Models, Biological, Models, Molecular, Mutation, Neonatal Screening/methods, Phenotype, Phenylalanine Hydroxylase/deficiency, Phenylketonurias/diagnosis",

author = "G Gramer and P Burgard and Garbade, {S F} and M Lindner",

year = "2007",

month = aug,

doi = "10.1007/s10545-007-0651-6",

language = "English",

volume = "30",

pages = "556--562",

journal = "J INHERIT METAB DIS",

issn = "0141-8955",

publisher = "Springer Netherlands",

number = "4",

}

RIS

TY - JOUR

T1 - Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia

AU - Gramer, G

AU - Burgard, P

AU - Garbade, S F

AU - Lindner, M

PY - 2007/8

Y1 - 2007/8

N2 - In recent years several studies on tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency have been published. The molecular mechanisms of BH4 responsiveness are not conclusively understood, but there is evidence that BH4 responsiveness in hyperphenylalaninaemia (HPA) depends on the patient's genotype and residual PAH activity. As a BH4 preparation will soon obtain marketing approval as an alternative treatment for phenylketonuria (PKU), it is particularly important to evaluate this treatment and to define criteria to identify patients with a potential benefit from it. Most of the patients found to be BH4-responsive suffered from mild PKU or mild hyperphenylalaninaemia (MHP) and some of these would not be treated at all in many countries. Of patients with moderate and classic forms of PKU, only a few were classified as responders and the clinical significance of the effect size may be small.

AB - In recent years several studies on tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency have been published. The molecular mechanisms of BH4 responsiveness are not conclusively understood, but there is evidence that BH4 responsiveness in hyperphenylalaninaemia (HPA) depends on the patient's genotype and residual PAH activity. As a BH4 preparation will soon obtain marketing approval as an alternative treatment for phenylketonuria (PKU), it is particularly important to evaluate this treatment and to define criteria to identify patients with a potential benefit from it. Most of the patients found to be BH4-responsive suffered from mild PKU or mild hyperphenylalaninaemia (MHP) and some of these would not be treated at all in many countries. Of patients with moderate and classic forms of PKU, only a few were classified as responders and the clinical significance of the effect size may be small.

KW - Biopterin/analogs & derivatives

KW - Dietary Supplements

KW - Genotype

KW - Humans

KW - Infant, Newborn

KW - Models, Biological

KW - Models, Molecular

KW - Mutation

KW - Neonatal Screening/methods

KW - Phenotype

KW - Phenylalanine Hydroxylase/deficiency

KW - Phenylketonurias/diagnosis

U2 - 10.1007/s10545-007-0651-6

DO - 10.1007/s10545-007-0651-6

M3 - SCORING: Journal article

C2 - 17680344

VL - 30

SP - 556

EP - 562

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 4

ER -