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

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

>> Visit BIOPKUdb section <<



Himmelreich N., Ramon-Maiques S., Navarrete R., Castejon-Fernandez N., Garbade S. F., Martinez A., Desviat L. R., Perez B., Blau N., Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape. Mol Genet Metab 142 (2024) 108514.

Alavanda C., Ceylan E. I., Kilavuz S., Ciki K., Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Turkiye. J Pediatr Endocrinol Metab DOI: 10.1515/jpem-2024-0091 (2024).

Tebieva I. S., Mishakova P. V., Gabisova Y. V., Khokhova A. V., Kaloeva T. G., Marakhonov A. V., Shchagina O. A., Polyakov A. V., Ginter E. K., Kutsev S. I., Zinchenko R. A., Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. Int J Mol Sci 25 (2024).

Martinez-Pizarro A., Alvarez M., Dembic M., Lindegaard C. A., Castro M., Richard E., Andresen B. S., Desviat L. R., Splice-Switching Antisense Oligonucleotides Correct Phenylalanine Hydroxylase Exon 11 Skipping Defects and Rescue Enzyme Activity in Phenylketonuria. Nucleic Acid Ther (2024).

Martinez-Pizarro A., Pico S., Lopez-Marquez A., Rodriguez-Lopez C., Montalvo E., Alvarez M., Castro M., Ramon-Maiques S., Perez B., Lucas J. J., Richard E., Desviat L. R., PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice. Hum Mol Genet (2024).

Khaghani F., Eshraghi P., Hamzehloei T., Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations. Clin Case Rep 12 (2024) e8598.

Pang Y. H., Gao X. Y., Yuan Z. Y., Huang H., Wang Z. Q., Peng L., Li Y. Q., Liu J., Liu D., Chen G. R., In vitro expression and functional analyses of the mutants p.R243Q, p.R241C and p.Y356X of the human phenylalanine hydroxylase. Zhongguo Dang Dai Er Ke Za Zhi 26 (2024) 188-193.

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.

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.

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.

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).

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.

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.

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.



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.



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