PROCHÁZKOVÁ, Dagmar, Petra KONEČNÁ, Zuzana HRUBÁ, Lucie KOLBOVA, Hana VINOHRADSKÁ and Zdeněk DOLEŽEL. Tetrahydrobiopterin-responsive phenylketonuria: the Czech experience (Tetrahydrobiopterin - responsive phenylketonuria: The Czech experience). In Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 2011. ISSN 0141-8955. Available from: https://dx.doi.org/10.1007/s10545-011-9371-z.
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Basic information
Original name Tetrahydrobiopterin-responsive phenylketonuria: the Czech experience
Name in Czech BH4 responzivní fenylketonurie: české zkušenosti
Authors PROCHÁZKOVÁ, Dagmar, Petra KONEČNÁ, Zuzana HRUBÁ, Lucie KOLBOVA, Hana VINOHRADSKÁ and Zdeněk DOLEŽEL.
Edition Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, 2011.
Other information
Original language English
Type of outcome Conference abstract
Field of Study 30209 Paediatrics
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 3.577
Organization unit Faculty of Medicine
ISSN 0141-8955
Doi http://dx.doi.org/10.1007/s10545-011-9371-z
UT WoS 000309837800111
Keywords (in Czech) BH4; PKU; HPA
Keywords in English BH4; PKU; HPA
Changed by Changed by: doc. MUDr. Dagmar Procházková, Ph.D., učo 45686. Changed: 24/2/2012 10:24.
Abstract
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.
Abstract (in Czech)
prezentujeme výsledky zátěžového testu s BH4 u pacientů s PKU/HPA
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