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

[ OPEN ACCESS ]


Database of PKU genotypes

Genotype-phenotype prediction

BH4 responsiveness prediction

[ OPEN ACCESS ]



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

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

Alibakhshi R, Kazeminia M, Moradi K. The pathogenicity classification of PAH gene variants in the Iranian population. Comput Biol Chem 98,2022: 107665.

https://www.ncbi.nlm.nih.gov/pubmed/35339094

Jin X, Yan Y, Zhang C, Tai Y, An L, Yu X, Zhang L, Hao S, Cao X, Yin C, Ma X. Identification of novel deep intronic PAH gene variants in patients diagnosed with phenylketonuria. Hum Mutat 43,2022: 56-66.

https://www.ncbi.nlm.nih.gov/pubmed/34747549

van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria. Nat Rev Dis Primers 7,2021: 36.

https://www.ncbi.nlm.nih.gov/pubmed/34017006

Xiao Y, Gu Q, Wu HR, Wang ST, Pei P, Zheng XF, Pan H, Ma YN. Molecular diagnosis of phenylketonuria in 157 Chinese families and the results of prenatal diagnosis in these families. Chin Med J (Engl),2021.

https://www.ncbi.nlm.nih.gov/pubmed/34039861

Ngiwsara L, Vatanavicharn N, Sawangareetrakul P, Liammongkolkul S, Ratanarak P, Boonyawat B, Srisomsap C, Champattanachai V, Ketudat-Cairns J, Wasant P, Svasti J. Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants. Mol Biol Rep,2021.

https://www.ncbi.nlm.nih.gov/pubmed/33677757

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

Zhao Z, Liu X, Huang C, Xu H, Fu C. Variants of the phenylalanine hydroxylase gene in neonates with phenylketonuria in Hainan, China. Scand J Clin Lab Invest 80,2020: 619-622.

https://www.ncbi.nlm.nih.gov/pubmed/33161754

Jafarzadeh-Esfehani R, Vojdani S, Hashemian S, Mirinezhad M, Pourafshar M, Forouzanfar N, Zargari S, Jaripour ME, Sadr-Nabavi A. Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran. J Pediatr Endocrinol Metab 33,2020: 355-359.

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

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

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
view personal profile

 

 

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