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Gene Review

HPD  -  4-hydroxyphenylpyruvate dioxygenase

Homo sapiens

Synonyms: 4-HPPD, 4-hydroxyphenylpyruvic acid oxidase, 4HPPD, GLOD3, HPPDASE, ...
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Disease relevance of HPD


Psychiatry related information on HPD

  • The features of sleep parameters in the Rett syndrome were compared with those in early infantile autism (EIA) and hereditary progressive dystonia with marked diurnal fluctuation (HPD) [5].
  • Including mixed cases, ie, PPD and multiple infarct dementia in estimates of the familial risk for AD can reduce the extent of underestimation of PPD [6].
  • METHODS: Using a telephone survey and the Edinburgh Postnatal Depression Scale questionnaire we identified PPD in a sample of women who gave birth in HaEmek Medical Center. We also assessed the extent to which the women consulted with family physicians, gynecologists and/or pediatricians [7].
  • CONCLUSIONS: Although many men in the postnatal period experience a variety of mental health problems, those who have a partner with PPD are themselves at increased risk for experiencing psychological symptoms and disturbances [8].
  • We studied factors contributing to an increased risk of PPD positive status among 147 inpatients dually diagnosed for mental illness and substance abuse in a large urban hospital [9].

High impact information on HPD

  • Functional studies revealed that, while both TCR-gamma/delta+ cell subsets showed CD3-mediated activation, only BB3+ (or Ti gamma A+) cells, but not delta TCS1+ cells, appeared to proliferate in response to PPD in PPD-reactive individuals [10].
  • It also rises rapidly after inoculation with tetanus toxoid and PPD in sensitized individuals [11].
  • Purified CD8+ but not CD4+ T cells activated in the AMLR in conditioned medium inhibited proliferation of autologous T cells by anti-CD3 or PPD [12].
  • A comparative study of strongly positive PPD skin tests in patients with tuberculosis showed significant basophil accumulations in five of nine subjects [13].
  • Inhibition of 4-hydroxyphenylpyruvate dioxygenase may prevent the development of liver cirrhosis and abolish or diminish the risk of liver cancer [14].

Chemical compound and disease context of HPD


Biological context of HPD


Anatomical context of HPD


Associations of HPD with chemical compounds


Other interactions of HPD

  • We report a case of a 46-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuations and dopa-responsive dystonia (HPD/DRD) [23].
  • Gelatin zymography demonstrated clear activation of proMMP-2 but not proMMP-9 in both of primary and HPD tumors, the MT1-MMP mRNA level and proMMP-2 activation being significantly correlated (r = 0.893, P < 0.001) [28].
  • Point mutations within the highly conserved HPD motif of the J-domain abolished activation of Hsc70 [29].
  • Early decrease of TH due to deficiency of BH4 in HPD/DRD also affects the DA-D4 receptor of the tuberoinfundibular DA neuron and cause stagnation of increase of body length in childhood [30].
  • The resulting HPX (hanging porphyrin xanthene) and HPD (hanging porphyrin dibenzofuran) systems permit both the orientation and acid-base properties of the hanging H-bonding group to be controlled [31].

Analytical, diagnostic and therapeutic context of HPD


  1. Expression and post-translational modification of human 4-hydroxy-phenylpyruvate dioxygenase. Aarenstrup, L., Falch, A.M., Jakobsen, K.K., Neve, S., Henriksen L, L.Ø., Tommerup, N., Leffers, H., Kristiansen, K. Cell Biol. Int. (2002) [Pubmed]
  2. Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ hybridization. Stenman, G., Röijer, E., Rüetschi, U., Dellsén, A., Rymo, L., Lindstedt, S. Cytogenet. Cell Genet. (1995) [Pubmed]
  3. Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase. Gibbs, T.C., Payan, J., Brett, E.M., Lindstedt, S., Holme, E., Clayton, P.T. J. Neurol. Neurosurg. Psychiatr. (1993) [Pubmed]
  4. Human 4-hydroxyphenylpyruvate dioxygenase. Primary structure and chromosomal localization of the gene. Rüetschi, U., Dellsén, A., Sahlin, P., Stenman, G., Rymo, L., Lindstedt, S. Eur. J. Biochem. (1993) [Pubmed]
  5. Polysomnography in the Rett syndrome. Segawa, M., Nomura, Y. Brain Dev. (1992) [Pubmed]
  6. The validity of the family history method for identifying Alzheimer disease. Li, G., Aryan, M., Silverman, J.M., Haroutunian, V., Perl, D.P., Birstein, S., Lantz, M., Marin, D.B., Mohs, R.C., Davis, K.L. Arch. Neurol. (1997) [Pubmed]
  7. The effect of postpartum depression on womens' consultations with physicians. Eilat-Tsanani, S., Merom, A., Romano, S., Reshef, A., Lavi, I., Tabenkin, H. Isr. Med. Assoc. J. (2006) [Pubmed]
  8. Psychological health of men with partners who have post-partum depression. Roberts, S.L., Bushnell, J.A., Collings, S.C., Purdie, G.L. The Australian and New Zealand journal of psychiatry. (2006) [Pubmed]
  9. Crack cocaine and schizophrenia as risk factors for PPD reactivity in the dually diagnosed. Taubes, T., Galanter, M., Dermatis, H., Westreich, L. Journal of addictive diseases : the official journal of the ASAM, American Society of Addiction Medicine. (1998) [Pubmed]
  10. Differential expression of CD45RO (UCHL1) and its functional relevance in two subpopulations of circulating TCR-gamma/delta+ lymphocytes. Miyawaki, T., Kasahara, Y., Taga, K., Yachie, A., Taniguchi, N. J. Exp. Med. (1990) [Pubmed]
  11. Two types of Ia-positive T cells. Synthesis and exchange of Ia antigens. Yu, D.T., McCune, J.M., Fu, S.M., Winchester, R.J., Kunkel, H.G. J. Exp. Med. (1980) [Pubmed]
  12. Inhibition of T cell responses by activated human CD8+ T cells is mediated by interferon-gamma and is defective in chronic progressive multiple sclerosis. Balashov, K.E., Khoury, S.J., Hafler, D.A., Weiner, H.L. J. Clin. Invest. (1995) [Pubmed]
  13. Basophils in tuberculin and "Jones-Mote" delayed reactions of humans. Askenase, P.W., Atwood, J.E. J. Clin. Invest. (1976) [Pubmed]
  14. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lindstedt, S., Holme, E., Lock, E.A., Hjalmarson, O., Strandvik, B. Lancet (1992) [Pubmed]
  15. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Rüetschi, U., Cerone, R., Pérez-Cerda, C., Schiaffino, M.C., Standing, S., Ugarte, M., Holme, E. Hum. Genet. (2000) [Pubmed]
  16. p53 mutation without allelic loss and absence of mdm-2 amplification in a transplantable hamster pancreatic ductal adenocarcinoma and derived cell lines but not primary ductal adenocarcinomas in hamsters. Okita, S., Tsutsumi, M., Onji, M., Konishi, Y. Mol. Carcinog. (1995) [Pubmed]
  17. Glucose administration augments in vivo uptake and phototoxicity of the tumor-localizing fraction of hematoporphyrin derivative. Thomas, J.P., Girotti, A.W. Photochem. Photobiol. (1989) [Pubmed]
  18. Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease. Nagatsu, T., Ichinose, H. Cell. Mol. Neurobiol. (1999) [Pubmed]
  19. Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans. da Silva Ferreira, M.E., Savoldi, M., Sueli Bonato, P., Goldman, M.H., Goldman, G.H. Eukaryotic Cell (2006) [Pubmed]
  20. Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). Awata, H., Endo, F., Matsuda, I. Genomics (1994) [Pubmed]
  21. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Tomoeda, K., Awata, H., Matsuura, T., Matsuda, I., Ploechl, E., Milovac, T., Boneh, A., Scott, C.R., Danks, D.M., Endo, F. Mol. Genet. Metab. (2000) [Pubmed]
  22. Human 4-hydroxyphenylpyruvate dioxygenase gene (HPD). Rüetschi, U., Rymo, L., Lindstedt, S. Genomics (1997) [Pubmed]
  23. A case of late-onset Segawa syndrome (autosomal dominant dopa-responsive dystonia) with a novel mutation of the GTP-cyclohydrase I (GCH1) gene. Furuya, H., Murai, H., Takasugi, K., Ohyagi, Y., Urano, F., Kishi, T., Ichinose, H., Kira, J. Clinical neurology and neurosurgery (2006) [Pubmed]
  24. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. Endo, F., Kubo, S., Awata, H., Kiwaki, K., Katoh, H., Kanegae, Y., Saito, I., Miyazaki, J., Yamamoto, T., Jakobs, C., Hattori, S., Matsuda, I. J. Biol. Chem. (1997) [Pubmed]
  25. Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations. Furukawa, Y., Kish, S.J., Bebin, E.M., Jacobson, R.D., Fryburg, J.S., Wilson, W.G., Shimadzu, M., Hyland, K., Trugman, J.M. Ann. Neurol. (1998) [Pubmed]
  26. Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). Holme, E., Lindstedt, S. J. Inherit. Metab. Dis. (1998) [Pubmed]
  27. The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Tanaka, H., Endo, K., Tsuji, S., Nygaard, T.G., Weeks, D.E., Nomura, Y., Segawa, M. Ann. Neurol. (1995) [Pubmed]
  28. Expression of matrix metalloproteinase 2 (MMP-2), membrane-type 1 MMP and tissue inhibitor of metalloproteinase 2 and activation of proMMP-2 in pancreatic duct adenocarcinomas in hamsters treated with N-nitrosobis(2-oxopropyl)amine. Iki, K., Tsutsumi, M., Kido, A., Sakitani, H., Takahama, M., Yoshimoto, M., Motoyama, M., Tatsumi, K., Tsunoda, T., Konishi, Y. Carcinogenesis (1999) [Pubmed]
  29. Mutational analysis of cysteine-string protein function in insulin exocytosis. Zhang, H., Kelley, W.L., Chamberlain, L.H., Burgoyne, R.D., Lang, J. J. Cell. Sci. (1999) [Pubmed]
  30. Hereditary progressive dystonia with marked diurnal fluctuation. Segawa, M. Brain Dev. (2000) [Pubmed]
  31. Proton-coupled O-O activation on a redox platform bearing a hydrogen-bonding scaffold. Chang, C.J., Chng, L.L., Nocera, D.G. J. Am. Chem. Soc. (2003) [Pubmed]
  32. GTP-cyclohydrolase I gene mutations in hereditary progressive amd dopa-responsive dystonia. Furukawa, Y., Shimadzu, M., Rajput, A.H., Shimizu, Y., Tagawa, T., Mori, H., Yokochi, M., Narabayashi, H., Hornykiewicz, O., Mizuno, Y., Kish, S.J. Ann. Neurol. (1996) [Pubmed]
  33. Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I: relationship to etiology of dopa-responsive dystonia. Suzuki, T., Ohye, T., Inagaki, H., Nagatsu, T., Ichinose, H. J. Neurochem. (1999) [Pubmed]
  34. Hematoporphyrin and HPD: photophysics, photochemistry and phototherapy. Kessel, D. Photochem. Photobiol. (1984) [Pubmed]
  35. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia. Hirano, M., Tamaru, Y., Nagai, Y., Ito, H., Imai, T., Ueno, S. Biochem. Biophys. Res. Commun. (1995) [Pubmed]
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