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


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



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 <<



Su, Y., H. Wang, N. Rejiafu, B. Wu, H. Jiang, H. Chen, X. A, Y. Qian, M. Li, Y. Lu, Y. Ren, L. Li and W. Zhou (2019). "The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra." Ann Transl Med 7(12): 258.

Kuznetcova, I., P. Gundorova, O. Ryzhkova and A. Polyakov (2019). "The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene." Metab Brain Dis. DOI: 10.1007/s11011-019-00461-w

Stojiljkovic, M., J. Jovanovic, M. Djordjevic, S. Grkovic, M. Cvorkov Drazic, B. Petrucev, N. Tosic, T. Karan Djurasevic, L. Stojanov and S. Pavlovic (2006). "Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro." Clin Genet 70(2): 151-5.

Zhang, X., J. Ye, N. Shen, Y. Tao, L. Han, W. Qiu, H. Zhang, L. Liang, Y. Fan, J. Wang, Z. Gong, Y. Wang, G. You, Q. Fu, X. Mo, X. Gu and Y. Yu (2019). "In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients." Gene. Epub

Vieira Neto E., Laranjeira F., Quelhas D., Ribeiro I., Seabra A., Mineiro N., Carvalho L. M., Lacerda L., Ribeiro M. G., Genotype-phenotype correlations and BH4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil. Mol Genet Genomic Med (2019) e610.

Yan Y., Zhang C., Jin X., Zhang Q., Zheng L., Feng X., Hao S., Gao H., Ma X., Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants. Metab Brain Dis (2019).

Gundorova P., Stepanova A. A., Kuznetsova I. A., Kutsev S. I., Polyakov A. V., Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia. PLoS One 14 (2019) e0211048.

Kure S., Shintaku H., Tetrahydrobipterin-responsive phenylalanine hydroxylase deficiency. J Hum Genet 64 (2019) 67-71.

Shirzadeh T., Saeidian A. H., Bagherian H., Salehpour S., Setoodeh A., Alaei M. R., Youssefian L., Samavat A., Touati A., Fallah M. S., Vahidnezhad H., Karimipoor M., Azadmehr S., Raeisi M., Bandehi Sarhadi A., Zafarghandi Motlagh F., Jamali M., Zeinali Z., Abiri M., Zeinali S., Additional individual contributors, Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population. J Inherit Metab Dis 41 (2018) 1159-1167.

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.

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.

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.

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

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




AADC Research Trust

PND Association




Nenad Blau
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