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 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?

Is a variant (mutation) severe or mild?

>> Visit BIOPKUdb section <<

 

NEW 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

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
view personal profile

 

 

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