NEWS

Genotypic phenotype prediction in PKU

New search feature uses algorithms developed by the Heidelberg PKU Research Group and calculates APV (allelic phenotype value).

How severe is the genotype of your patient?

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NEW PUBLICATIONS

Kreile, M., Lubina, O., Ozola-Zalite, I., Lugovska, R., Pronina, N., Sterna, O., Vevere, P., Konika, M., Malniece, I., and Gailite, L. (2020). Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance. MGM Reports 25, 100671.

https://www.ncbi.nlm.nih.gov/pubmed/33101986

Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, et al. The genetic landscape and epidemiology of phenylketonuria. Am J Hum Genet. 2020;107:234-50.

https://doi.org/10.1016/j.ajhg.2020.06.006

Tao Y, Han D, Shen H, Li X. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province. Brain Dev. 2020.

https://www.ncbi.nlm.nih.gov/pubmed/32893076

Jafarzadeh-Esfehani R, Vojdani S, Hashemian S, Mirinezhad M, Pourafshar M, Forouzanfar N, et al. Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran. J Pediatr Endocrinol Metab. 2020.

https://www.ncbi.nlm.nih.gov/pubmed/32069237

Polak E, Kadasi L. Molecular genetics, phenotypic diversity and recent trends of personalized medicine in phenylketonuria. ?es-slov Pediat. 2015;70(6):333-41.

Zastrow D. B., Baudet H., Shen W., Thomas A., Si Y., Weaver M. A., Lager A. M., Liu J., Mangels R., Dwight S. S., Wright M. W., Dobrowolski S. F., Eilbeck K., Enns G. M., Feigenbaum A., Lichter-Konecki U., Lyon E., Pasquali M., Watson M., Blau N., Steiner R. D., Craigen W. J., Mao R., ClinGen Inborn Errors of Metabolism Working Group, Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat 39 (2018) 1569-1580.

https://www.ncbi.nlm.nih.gov/pubmed/30311390

Garbade S. F., Shen N., Himmelreich N., Haas D., Trefz F. K., Hoffmann G. F., Burgard P., Blau N., Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria. Genet Med (2018) DOI: 10.1038/s41436-018-0081-x.

https://www.ncbi.nlm.nih.gov/pubmed/29997390

FREQUENTLY ACCESSED WEBSITES

AADC Research Trust

PND Association

E.S.PKU

WEBSITE MANAGER

Nenad Blau
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