PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

Active Databases: all


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



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 <<



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.

Kure S., Shintaku H., Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency. J Hum Genet (2018) DOI: 10.1038/s10038-018-0529-5

Chen T., Xu W., Wu D., Han J., Zhu L., Tong F., Yang R., Zhao Z., Jiang P., Shu Q., Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China. Sci Rep 8 (2018) 17137.

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.

Zhang Z., Gao J. J., Feng Y., Zhu L. L., Yan H., Shi X. F., Chang A. M., Shi Y., Wang P., Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. Scand J Clin Lab Invest 78 (2018) 211-218.

Vieira Neto E., Laranjeira F., Quelhas D., Ribeiro I., Seabra A., Mineiro N., L D. M. Carvalho, Lacerda L., M G. Ribeiro, Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil. Mol Genet Genomic Med (2018).

Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y.
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population. Clin Chim Acta, 2018

Zhang Z, Gao JJ, Feng Y, Zhu LL, Yan H, Shi XF, Chang AM, Shi Y, Wang P.
Mutational spectrum of the phenylalanine hydroxylase gene in patients with phenylketonuria in the central region of China. Scand J Clin Lab Invest, 1-8, 2018

Blau N, Martinez A, Hoffmann GF, Thony B.
DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias. Mol Genet Metab 123, 1-5, 2018

Straniero, L., I. Guella, R. Cilia, L. Parkkinen, V. Rimoldi, A. Young, R. Asselta, G. Solda, V. Sossi, A. J. Stoessl, A. Priori, K. Nishioka, N. Hattori, J. Follett, A. Rajput, N. Blau, G. Pezzoli, M. J. Farrer, S. Goldwurm, A. H. Rajput and S. Duga (2017). "DNAJC12 and dopa-responsive non-progressive Parkinsonism." Ann Neurol. Epub ahead of press

van Spronsen, F. J., N. Himmelreich, V. Rufenacht, N. Shen, D. V. Vliet, M. Al-Owain, K. Ramzan, S. M. Alkhalifi, R. J. Lunsing, R. M. Heiner-Fokkema, A. Rassi, C. Gemperle-Britschgi, G. F. Hoffmann, N. Blau and B. Thony (2017). "Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability." J Med Genet. Epub ahead of press




AADC Research Trust

PND Association

The World of PKU




Nenad Blau
view personal profile


Database of PKU genotypes

Genotype-phenotype prediction

BH4 responsiveness prediction


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

Link to BIODEF database

Link to JAKE database


Database of patients with PND

AADC defiiciency

TH deficiency


Link to PND database


Database of BH4-deficient patients

Link to PND database