PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

Active Databases: all

About BioPKU.org

This website hosts databases of Pediatric Neurotransmitter Disorders (PND), including the locus-specific database of PAH variants and BIOPKU genotypes database.


Phanylalanine Hydroxylase Locus-Specific Database

3D structures

[ CLOSED FOR MAINTENANCE ]


Database of PKU genotypes

Genotype-phenotype prediction

BH4 responsiveness prediction

[ CLOSED FOR MAINTENANCE ]



BH4 deficiencies and PND Locus-Specific Databases (formerly BIOMDB)

Link to BIODEF database

Link to JAKE database

[ OPEN ACCESS ]



Database of patients with PND

AADC defiiciency

TH deficiency

 

Link to PND database

[OPEN ACCESS]



Database of BH4-deficient patients

Link to PND database

[OPEN ACCESS]


NEWS

Genotypic phenotype prediction

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

>> Visit BIOPKUdb section <<

 

NEW PUBLICATIONS

Zhang C., Zhang P., Yan Y., Zhou B., Wang Y., Tian X., Hao S., Ma P., Zheng L., Zhang Q., Hui L., Wang Y., Cao Z., Ma X., The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China. Hum Genomics 17 (2023) 36.

https://www.ncbi.nlm.nih.gov/pubmed/37098607

Yu X., Liu F., Wei B., Li M., Lu R., Pan L., Mutation Characteristics of Phenylalanine Hydroxylase Gene in Children with Phenylketonuria in Yinchuan City. Discov Med 35 (2023) 533-538.

https://www.ncbi.nlm.nih.gov/pubmed/37553307

Fang Y., Gao J., Guo Y., Li X., Yuan E., Yuan E., Song L., Shi Q., Yu H., Zhao D., Zhang L., Allelic phenotype prediction of phenylketonuria based on the machine learning method. Hum Genomics 17 (2023) 34.

https://www.ncbi.nlm.nih.gov/pubmed/37004080

Ajami N., Soleimani A., Jafarzadeh-Esfehani R., Hasanpour M., Rashid Shomali R., Abbaszadegan M. R., Mutational landscape of phenylketonuria in Iran. J Cell Mol Med DOI: 10.1111/jcmm.17865 (2023).

https://www.ncbi.nlm.nih.gov/pubmed/37525467

Gao J, Li X, Guo Y, Yu H, Song L, Fang Y, Yuan E, Shi Q, Zhao D, Yuan E, Zhang L. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing. Hum Genomics 16,2022: 23.

https://www.ncbi.nlm.nih.gov/pubmed/35869558

Khaghani F, Eshraghi P, Hamzehloie T. Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes. Eur J Med Genet,2022: 104536.

https://www.ncbi.nlm.nih.gov/pubmed/35690318

Cinar M, Kilic Yildirim G, Kocagil S, Cilingir O. Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey. J Pediatr Endocrinol Metab,2022.

https://www.ncbi.nlm.nih.gov/pubmed/35355500

 

KEY PUBLICATIONS

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

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

E.S.PKU

 

WEBSITE MANAGER

Nenad Blau
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