Pediatric Neurology
Volume 46, Issue 2 , Pages 77-82 , February 2012

Tyrosine Hydroxylase Deficiency in Taiwanese Infants

  • Ching-Shiang Chi, MD

      Affiliations

    • Department of Pediatrics, Tungs’ Taichung Metroharbor Hospital, Taichung, Taiwan, Republic of China
    • Institute of Biochemistry and Biotechnology, College of Medicine, Chung Shan Medical University, Taichung, Taiwan, Republic of China
    • ,
  • Hsiu-Fen Lee, MD

      Affiliations

    • Institute of Biochemistry and Biotechnology, College of Medicine, Chung Shan Medical University, Taichung, Taiwan, Republic of China
    • Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan, Republic of China
    • Corresponding Author InformationCommunications should be addressed to: Dr. Lee; Department of Pediatrics; Taichung Veterans General Hospital; No.160, Sec. 3, Taichung-Kang Road; Taichung 407, Taiwan, Republic of China.
    • ,
  • Chi-Ren Tsai, MS

      Affiliations

    • Institute of Biochemistry and Biotechnology, College of Medicine, Chung Shan Medical University, Taichung, Taiwan, Republic of China
    • Institute of Molecular Biology, National Chung Hsing University, Taichung, Taiwan, Republic of China

Received 28 July 2011 ,Accepted 22 November 2011.

References 

  1. Nagatsu T, Stjärne L. Catecholamine synthesis and release: Overview. Adv Pharmacol. 1998;42:1–14
  2. Nagatsu T, Ichinose H. Comparative studies on the structure of human tyrosine hydroxylase with those of the enzyme of various mammals. Comp Biochem Physiol. 1991;98C:203–210
  3. Lüdecke B, Knappskog PM, Clayton PT, et al. Recessively inherited L-dopa-responsive Parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum Mol Genet. 1996;5:1023–1028
  4. Willemsen MA, Verbeek MM, Kamsteeg EJ, et al. Tyrosine hydroxylase deficiency: A treatable disorder of brain catecholamine biosynthesis. Brain. 2010;133:1810–1822
  5. Pons R, Serrano M, Ormazabal A, et al. Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation. Move Disord. 2010;25:1086–1090
  6. Yeung WI, Wong VCN, Chan KY, et al. Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency. J Child Neurol. 2011;26:179–187
  7. Mak CM, Lam CW, Siu TS, et al. Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese. Mol Genet Metab. 2010;99:431–433
  8. Lüdecke B, Dworniczak B, Bartholomé K. A point mutation in the tyrosine hydroxylase gene associated with Segawa’s syndrome. Hum Genet. 1995;95:123–125
  9. Knappskog PM, Flatmark T, Mallet J, Lüdecke B, Bartholomé K. Recessively inherited L-dopa-responsive dystonia cause by a point mutation (Q318K) in the tyrosine hydroxylase gene. Hum Mol Genet. 1995;4:1209–1212
  10. Hoffmann GF, Surtees RAH, Wevers RA. Cerebrospinal fluid investigations for neurometabolic disorders. Neuropediatrics. 1998;29:59–71
  11. Grattan-Smith PJ, Wevers RA, Steenbergen-Spanjers GC, Fung VSC, Earl J, Wilcken B. Tyrosine hydroxylase deficiency: Clinical manifestations of catecholamine insufficiency in infancy. Move Disord. 2002;17:354–359
  12. de Lonlay P, Nassogne MC, van Gennip AH, et al. Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation. J Inherit Metab Dis. 2000;23:819–825
  13. Hoffmann GF, Assmann B, Bräutigam C, et al. Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia. Ann Neurol. 2003;54(Suppl. 6):S56–S65
  14. Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R. Tyrosine hydroxylase deficiency with severe clinical course. Mol Genet Metab. 2009;97:18–20
  15. Lee HF, Tsai CR, Chi CS, Chang TM, Lee HJ. Aromatic L-amino acid decarboxylase deficiency in Taiwan. Eur J Paediatr Neurol. 2009;13:135–140
  16. Segawa M, Nomura Y, Nishiyama N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol. 2003;54(Suppl. 6):S32–S45
  17. Wevers RA, de Rijk-van Andel JF, Bräutigam C, et al. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J Inherit Metab Dis. 1999;22:364–373
  18. Dionisi-Vici C, Hoffmann GF, Leuzzi V, et al. Tyrosine hydroxylase deficiency with severe clinical course: Clinical and biochemical investigations and optimization of therapy. J Pediatr. 2000;136:560–562

PII: S0887-8994(11)00473-5

doi: 10.1016/j.pediatrneurol.2011.11.012

Pediatric Neurology
Volume 46, Issue 2 , Pages 77-82 , February 2012

Article Tools

* Image Usage & Resolution