Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III

Molecular Genetics and Metabolism

Volumn 91, Issue 4, 2007, Pages 379-383

  Item, Chike Bellarmine ^a   Mihalek, Ivana ^b   Lichtarge, Oliver ^b   Jalan, Anil ^c   Vodopiutz, Julia ^a   Muhl, Adolf ^a   Bodamer, Olaf A ^a  

^a ST ANNA CHILDREN S HOSPITAL   (Austria)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Navi Mumbai Institute of Research in Mental and Neurological Handicap   (India)

Author keywords

5 Oxoproline; Hawkinsinuria; Tyrosinemia

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; ASPARAGINE; ISOLEUCINE; METHIONINE; PHENYLALANINE; SERINE;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; CASE REPORT; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME METABOLISM; GENE MUTATION; HAWKINSINURIA; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TYROSINEMIA;

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; AMINO ACIDS, SULFUR; CYCLOHEXENES; DNA; HETEROZYGOTE DETECTION; HUMANS; INFANT; MODELS, MOLECULAR; POLYMERASE CHAIN REACTION; PROTEIN CONFORMATION; TYROSINEMIAS;

RATTUS;

EID: 34447285757     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.04.008     Document Type: Article

References (21)

1. Moran G.R. 4-Hydroxyphenylpyruvate dioxygenase. Arch. Biochem. Biophys. 433 (2005) 117-128
2. Lehnert W., Stogmann W., Engelke U., Wevers R.A., and Van den Berg G.B. Long-term follow up of a new case of hawkinsinuria. Eur J. Pediatr 158 (1999) 578-582
3. Tomoeda K., Awata H., Matsuura T., Matsuda I., Ploechl E., Milovac T., Boneh A., Scott C.R., Danks D.M., and Endo F. Mutations in the 4-hydroxyphenylpyruvic acid dioygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol. Genet. Metab. 71 (2000) 506-510
4. Wilcken B., Hammond J.W., Howard N., Bohane T., Hogart C., and Halpern B. Hawkinsinuria: a dominantly inherited defect of tyrosine metabolism with severe effects in infancy. N. Eng. J. Med. 305 (1981) 865-869
5. Ruetschi U., Cerone R., Perez-Cerda C., Schiaffino M.C., Standing S., Ugarte M., and Holme E. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum. Genet. 106 (2000) 654-662
6. Holme E., and Lindstedt S. Tyrosinemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione). J. Inherit. Metab. Dis. 21 (1998) 507-517
7. Lindstedt S., Holme E., Lock E.A., Hjalmarson O., and Strandvik B. Treatment of hereditary tyrosinemia type 1 by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet 340 (1992) 813-817
8. Yang C., Pflugarth J.W., Camper D.L., Foster M.L., Pernich D.J., and Walsh T.A. Structural basis for herbicidal inhibitor selectivity revealed by comparison of crystal structures of plant and mammalian 4-hydroxyphenylpyruvate dioxygenases. Biochemistry 43 (2004) 10414-10423
9. Mihalek I., Res I., and Lichtarge O. A family of evolution-entropy hybrid methods for ranking of protein residues by importance. J. Mol. Biol. 336 (2004) 1265-1282
10. Valdar W. Scoring residue conservation. Proteins Struct. Funct. Genet. 48 (2000) 227-237
11. Eddy S.R. Profile hidden Markov models. Bioinformatics 14 (1994) 755-763
12. Bairoch A., Apweiler R., Wu C.H., Barker W.C., Boeckmann B., Ferro S., Gasteiger E., Huang H., Lopez R., Magrane M., Martin M.J., Natale D.A., O'Donovan C., Redaschi N., and Yeh L.S. The universal protein resource (UniProt). Nucleic Acids Res. 33 (2005) D154-D159
13. Edgar R.C. MUSCLE: multiple sequence alignment with high accuracy and high throughput. Nucleic Acids Res 32 (2004) 1792-1797
14. Van Wageningen A., Kirkpatrick P., Williams D., Harris B.R., Kershaw J.K., Lennard N.J., Jones M., Jones S.L., and Solenberg P.J. Sequencing and analysis of genes involved in the biosynthesis of a vancomycin group antibiotic. Chem. Biol. 3 (1998) 155-162
15. Held P.K. Disorders of tyrosine catabolism. Mol. Genet. Metab 88 (2006) 103-106
16. Eswaramoorthy S., Bonanno J.B., Burley S.K., and Swaminathan S. Mechanism of action of a flavin-containing monooxygenase. PNAS 103 (2006) 9832-9837
17. Lindblad B., Lindstedt G., and Lindstedt S. Mechanism of enzymic formation of homogentisate from p-hydroxyphenylpyruvate. J. Am. Chem. Soc. 92 (1970) 7446-7449
18. Vockley J., Rinaldo P., Bennett M.J., and Vladutiu G.D. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet. Metab. 71 (2000) 10-18
19. Sherry S.T., Ward M., and Sirotkin K. dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res. 9 (1999) 677-679
20. Berman H.M., Westbrook J., Feng Z., Gilliland G., Bhat T.N., Weissig H., Shindyalov I.N., and Bourne P.E. The protein data bank. Nucleic Acids Res 28 (2000) 235-242
21. W.L. DeLano, The PyMOL Molecular Graphics System. DeLano Scientific, San Carlos, CA, USA (2002) .