Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia
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2015
Authors
Stojiljković, MajaKlaassen, Kristel
Đorđević, Maja
Sarajlija, Adrijan
Kecman, Bozica
Ugrin, Milena
Zukić, Branka
Desviat, Lourdes R.
Pavlović, Sonja
Perez, Belen
Article (Published version)
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Show full item recordAbstract
Hyperphenylalaninemia (HPA) [phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiencies] is rare inborn metabolic disease characterized by elevated phenylalanine level in body fluids. In Serbia, 62 HPA patients have been identified through newborn screening since 1983. However, pterin pattern analysis is not performed. We present a patient initially diagnosed and treated as classical PKU. At 3 years of age, during infection with H1N1 influenza A virus, the patient first developed a neurologic crisis with encephalopathy and dystonic movements. We suspected that the patient is the first case of BH4 deficiency identified in Serbia. Genetic analyses showed that the patient does not have disease- causing variants of the PAH gene and carries a p. Asp136Val mutation in homozygous state in the PTS gene. For patients with treatable rare diseases, like PKU and BH4 deficiencies, correct diagnosis is crucial for the implementation of optimal treatment. If biochemical tests needed for differe...ntial diagnosis are not available, our experience emphasizes the necessity of immediate genetic testing after newborn screening.
Keywords:
tetrahydrobiopterin / PTPS deficiency / phenylketonuria / mutation detection / hyperphenylalaninemia / dystoniaSource:
Journal of Pediatric Endocrinology & Metabolism, 2015, 28, 3-4, 477-480Publisher:
- Walter De Gruyter Gmbh, Berlin
Funding / projects:
- Rare Diseases:Molecular Pathophysiology, Diagnostic and Therapeutic Modalities and Social, Ethical and Legal Aspects (RS-MESTD-Integrated and Interdisciplinary Research (IIR or III)-41004)
- Ministry of Economy and Competitiveness, Spain [PRI-AIBSE-2011-1126]
- 451-03-02635/2011-14/14
DOI: 10.1515/jpem-2014-0297
ISSN: 0334-018X
PubMed: 25418970
WoS: 000352484000040
Scopus: 2-s2.0-84924872077
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Institution/Community
Institut za molekularnu genetiku i genetičko inženjerstvoTY - JOUR AU - Stojiljković, Maja AU - Klaassen, Kristel AU - Đorđević, Maja AU - Sarajlija, Adrijan AU - Kecman, Bozica AU - Ugrin, Milena AU - Zukić, Branka AU - Desviat, Lourdes R. AU - Pavlović, Sonja AU - Perez, Belen PY - 2015 UR - https://imagine.imgge.bg.ac.rs/handle/123456789/882 AB - Hyperphenylalaninemia (HPA) [phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiencies] is rare inborn metabolic disease characterized by elevated phenylalanine level in body fluids. In Serbia, 62 HPA patients have been identified through newborn screening since 1983. However, pterin pattern analysis is not performed. We present a patient initially diagnosed and treated as classical PKU. At 3 years of age, during infection with H1N1 influenza A virus, the patient first developed a neurologic crisis with encephalopathy and dystonic movements. We suspected that the patient is the first case of BH4 deficiency identified in Serbia. Genetic analyses showed that the patient does not have disease- causing variants of the PAH gene and carries a p. Asp136Val mutation in homozygous state in the PTS gene. For patients with treatable rare diseases, like PKU and BH4 deficiencies, correct diagnosis is crucial for the implementation of optimal treatment. If biochemical tests needed for differential diagnosis are not available, our experience emphasizes the necessity of immediate genetic testing after newborn screening. PB - Walter De Gruyter Gmbh, Berlin T2 - Journal of Pediatric Endocrinology & Metabolism T1 - Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia EP - 480 IS - 3-4 SP - 477 VL - 28 DO - 10.1515/jpem-2014-0297 ER -
@article{ author = "Stojiljković, Maja and Klaassen, Kristel and Đorđević, Maja and Sarajlija, Adrijan and Kecman, Bozica and Ugrin, Milena and Zukić, Branka and Desviat, Lourdes R. and Pavlović, Sonja and Perez, Belen", year = "2015", abstract = "Hyperphenylalaninemia (HPA) [phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiencies] is rare inborn metabolic disease characterized by elevated phenylalanine level in body fluids. In Serbia, 62 HPA patients have been identified through newborn screening since 1983. However, pterin pattern analysis is not performed. We present a patient initially diagnosed and treated as classical PKU. At 3 years of age, during infection with H1N1 influenza A virus, the patient first developed a neurologic crisis with encephalopathy and dystonic movements. We suspected that the patient is the first case of BH4 deficiency identified in Serbia. Genetic analyses showed that the patient does not have disease- causing variants of the PAH gene and carries a p. Asp136Val mutation in homozygous state in the PTS gene. For patients with treatable rare diseases, like PKU and BH4 deficiencies, correct diagnosis is crucial for the implementation of optimal treatment. If biochemical tests needed for differential diagnosis are not available, our experience emphasizes the necessity of immediate genetic testing after newborn screening.", publisher = "Walter De Gruyter Gmbh, Berlin", journal = "Journal of Pediatric Endocrinology & Metabolism", title = "Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia", pages = "480-477", number = "3-4", volume = "28", doi = "10.1515/jpem-2014-0297" }
Stojiljković, M., Klaassen, K., Đorđević, M., Sarajlija, A., Kecman, B., Ugrin, M., Zukić, B., Desviat, L. R., Pavlović, S.,& Perez, B.. (2015). Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. in Journal of Pediatric Endocrinology & Metabolism Walter De Gruyter Gmbh, Berlin., 28(3-4), 477-480. https://doi.org/10.1515/jpem-2014-0297
Stojiljković M, Klaassen K, Đorđević M, Sarajlija A, Kecman B, Ugrin M, Zukić B, Desviat LR, Pavlović S, Perez B. Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia. in Journal of Pediatric Endocrinology & Metabolism. 2015;28(3-4):477-480. doi:10.1515/jpem-2014-0297 .
Stojiljković, Maja, Klaassen, Kristel, Đorđević, Maja, Sarajlija, Adrijan, Kecman, Bozica, Ugrin, Milena, Zukić, Branka, Desviat, Lourdes R., Pavlović, Sonja, Perez, Belen, "Tetrahydrobiopterin deficiency among Serbian patients presenting with hyperphenylalaninemia" in Journal of Pediatric Endocrinology & Metabolism, 28, no. 3-4 (2015):477-480, https://doi.org/10.1515/jpem-2014-0297 . .