Tetrahydrobiopterin-responsive phenylketonuria: the Czech
experience

a 2011

Tetrahydrobiopterin-responsive phenylketonuria: the Czech experience

PROCHÁZKOVÁ, Dagmar, Petra KONEČNÁ, Zuzana HRUBÁ, Lucie KOLBOVA, Hana VINOHRADSKÁ et. al.

Základní údaje

Originální název

Tetrahydrobiopterin-responsive phenylketonuria: the Czech experience

Název česky

BH4 responzivní fenylketonurie: české zkušenosti

Autoři

PROCHÁZKOVÁ, Dagmar, Petra KONEČNÁ, Zuzana HRUBÁ, Lucie KOLBOVA, Hana VINOHRADSKÁ a Zdeněk DOLEŽEL

Vydání

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 2011

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Obor

30209 Paediatrics

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.577

Organizační jednotka

Lékařská fakulta

ISSN

DOI

http://dx.doi.org/10.1007/s10545-011-9371-z

UT WoS

000309837800111

Klíčová slova česky

BH4; PKU; HPA

Klíčová slova anglicky

BH4; PKU; HPA

Změněno: 24. 2. 2012 10:24, doc. MUDr. Dagmar Procházková, Ph.D.

Anotace

ORIG CZ

V originále

Phenylketonuria (OMIM 261600) is an inherited metabolic disease due to a deficiecy of hepatic phenylalaninhydroxylase (PAH;12q24.1). Tetrahydrobiopterin (BH4) responsiveness in patients with specific mutations in the PAH gene is a subtype of hyperfenylalaninaemia (HPA) charecterised by a positive BH4 loading test. Methods: We tested 23 patients with HPA/PKU, 4–39 years of age, selected (based on genotype) as a potentially BH4 responsive and loaded with BH4 (20 mg/kg). Results: Overall 10/23 showed positive response of more than 30% decrease in blood Phe levels 8 h after BH4 challenge, and 7/23 showed this decrease after 24 h. The majority of the responsive patients belong to mild HPA (13/17). In p.E390G, p.A300S, p. A403V, p. Y414C, p.I306V, p. G272X and p.Y387H mutations were 100% associated with BH4 responsiveness. The p.R158Q mutation was inconstantly responsive. The EX5del-4 kb mutation was responsive regardless of the second allele (p.A403V, p.R408W). In patient with mild PKU and novel mutation p. K396R (genotype p.R408W/p.K396R) no responsiveness was noticed. Conclusion: The best responders were patients with mild HPA. Very interesting group are patients with the novel mutation in the PAH gene.

Česky

prezentujeme výsledky zátěžového testu s BH4 u pacientů s PKU/HPA

Citovat

PROCHÁZKOVÁ, Dagmar, Petra KONEČNÁ, Zuzana HRUBÁ, Lucie KOLBOVA, Hana VINOHRADSKÁ a Zdeněk DOLEŽEL. Tetrahydrobiopterin-responsive phenylketonuria: the Czech experience. In Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 2011. ISSN 0141-8955. Dostupné z: https://dx.doi.org/10.1007/s10545-011-9371-z.

@proceedings{956147,
   author = {Procházková, Dagmar and Konečná, Petra and Hrubá, Zuzana and Kolbova, Lucie and Vinohradská, Hana and Doležel, Zdeněk},
   booktitle = {Annual Symposium of the Society for the Study of Inborn Errors of Metabolism},
   doi = {http://dx.doi.org/10.1007/s10545-011-9371-z},
   keywords = {BH4; PKU; HPA},
   language = {eng},
   title = {Tetrahydrobiopterin-responsive phenylketonuria: the Czech experience},
   year = {2011}
}

TY  - CONF
ID  - 956147
AU  - Procházková, Dagmar - Konečná, Petra - Hrubá, Zuzana - Kolbova, Lucie - Vinohradská, Hana - Doležel, Zdeněk
PY  - 2011
TI  - Tetrahydrobiopterin-responsive phenylketonuria: the Czech experience
KW  - BH4
KW  - PKU
KW  - HPA
N2  - Phenylketonuria (OMIM 261600) is an inherited metabolic disease due to a deficiecy of hepatic phenylalaninhydroxylase (PAH;12q24.1). Tetrahydrobiopterin (BH4) responsiveness in patients with specific mutations in the PAH gene is a subtype of hyperfenylalaninaemia (HPA) charecterised by a positive BH4 loading test. Methods: We tested 23 patients with HPA/PKU, 4–39 years of age, selected (based on genotype) as a potentially BH4 responsive and loaded with BH4 (20 mg/kg). Results: Overall 10/23 showed positive response of more than 30% decrease in blood Phe levels 8 h after BH4 challenge, and 7/23 showed this decrease after 24 h. The majority of the responsive patients belong to mild HPA (13/17). In p.E390G, p.A300S, p. A403V, p. Y414C, p.I306V, p. G272X and p.Y387H mutations were 100% associated with BH4 responsiveness. The p.R158Q mutation was inconstantly responsive. The EX5del-4 kb mutation was responsive regardless of the second allele (p.A403V, p.R408W). In patient with mild PKU and novel mutation p. K396R (genotype p.R408W/p.K396R) no responsiveness was noticed. Conclusion: The best responders were patients with mild HPA. Very interesting group are patients with the novel mutation in the PAH gene.
ER  -

PROCHÁZKOVÁ, Dagmar, Petra KONEČNÁ, Zuzana HRUBÁ, Lucie KOLBOVA, Hana VINOHRADSKÁ a Zdeněk DOLEŽEL. Tetrahydrobiopterin-responsive phenylketonuria: the Czech experience. In \textit{Annual Symposium of the Society for the Study of Inborn Errors of Metabolism}. 2011. ISSN~0141-8955. Dostupné z: https://dx.doi.org/10.1007/s10545-011-9371-z.

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