Biochemical and molecular characterization of tyrosine hydroxylase deficiency in Hong Kong Chinese

Molecular Genetics and Metabolism

Volumn 99, Issue 4, 2010, Pages 431-433

  Mak, C M ^a,c   Lam, C W ^b   Siu, T S ^c   Chan, K Y ^a   Siu, W K ^a   Yeung, W L ^d   Hui, J ^e   Wong, V C N ^b   Low, L C K ^b   Ko, C H ^f   Fung, C W ^b   Chen, S P ^a   Yuen, Y P ^a   Lee, H C ^a   Yau, E ^a   Chan, B ^a   Tong, S F ^b   Tam, S ^c   Chan, Y W ^a  

^a PRINCESS MARGARET HOSPITAL   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

^c QUEEN MARY HOSPITAL   (Hong Kong)

^d ALICE HO MIU LING NETHERSOLE HOSPITAL   (Hong Kong)

^e CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^f Caritas Medical Centre Hong Kong   (Hong Kong)

Author keywords

CSF neurotransmitters; Dopa responsive dystonia; Homovanillic acid; Hong Kong Chinese; Mutational analysis; Tyrosine hydroxylase deficiency

Indexed keywords

CYSTEINE; GLYCINE; TYROSINE 3 MONOOXYGENASE;

ADULT; ARTICLE; BIOCHEMISTRY; CHILD; CHINESE; CLINICAL ARTICLE; GENE MUTATION; GENETIC HETEROGENEITY; HONG KONG; HUMAN; MISSENSE MUTATION; MOLECULAR DYNAMICS; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPLICING MUTATION; TYROSINE HYDROXYLASE DEFICIENCY;

AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; DYSTONIA; FEMALE; GALACTORRHEA; HOMOVANILLIC ACID; HONG KONG; HUMANS; INFANT; MALE; MUSCLE HYPOTONIA; MUTATION; TYROSINE 3-MONOOXYGENASE;

EID: 77649342143     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.12.011     Document Type: Article

References (22)

1. Pearl P.L., Taylor J.L., Trzcinski S., and Sokohl A. The pediatric neurotransmitter disorders. J. Child Neurol. 22 (2007) 606-616
2. Haavik J., Blau N., and Thony B. Mutations in human monoamine-related neurotransmitter pathway genes. Hum. Mutat. 29 (2008) 891-902
3. Swoboda K.J., and Hyland K. Diagnosis and treatment of neurotransmitter-related disorders. Neurol. Clin. 20 (2002) 1143-1161
4. Hanihara T., Inoue K., Kawanishi C., Sugiyama N., Miyakawa T., Onishi H., Yamada Y., Osaka H., Kosaka K., Iwabuchi K., and Owada M. 6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. Mov. Disord. 12 (1997) 408-411
5. Abeling N.G., Duran M., Bakker H.D., Stroomer L., Thony B., Blau N., Booij J., and Poll-The B.T. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol. Genet. Metab. 89 (2006) 116-120
6. Furukawa Y., Graf W.D., Wong H., Shimadzu M., and Kish S.J. Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 56 (2001) 260-263
7. Tassin J., Durr A., Bonnet A.M., Gil R., Vidailhet M., Lucking C.B., Goas J.Y., Durif F., Abada M., Echenne B., Motte J., Lagueny A., Lacomblez L., Jedynak P., Bartholome B., Agid Y., and Brice A. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain 123 (2000) 1112-1121
8. Wu Z.Y., Lin Y., Chen W.J., Zhao G.X., Xie H., Murong S.X., and Wang N. Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families. Clin. Genet. 74 (2008) 513-521
9. P.T. Clayton, S.J.R. Heales, M. Brand, J. Clelland, R.J. Surtees, An infant with clinical features, a metabolic profile to treatment suggestive of tyrosine hydroxylase deficiency, Poster presentation 49, 32nd Annu. Symp. Society for the Study of Inborn Errors of Metablism, Edinburgh, 1994.
10. Chan-Lui W.Y., and Low L.C. Progressive dystonia with marked diurnal fluctuation in a Chinese family. Aust. Paediatr. J. 20 (1984) 143-146
11. Yeung W.L., Lam C.W., Hui J., Tong S.F., and Wu S.P. Galactorrhea - a strong clinical clue towards the diagnosis of neurotransmitter disease. Brain Dev. 28 (2006) 389-391
12. Furukawa Y. Update on dopa-responsive dystonia: locus heterogeneity and biochemical features. Adv. Neurol. 94 (2004) 127-138
13. Schiller A., Wevers R.A., Steenbergen G.C., Blau N., and Jung H.H. Long-term course of l-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology 63 (2004) 1524-1526
14. Hyland K., Smith I., Clayton P.T., and Leonard J.V. Impaired neurotransmitter amine metabolism in arginase deficiency. J. Neurol. Neurosurg. Psychiatry 48 (1985) 1188-1189
15. Hyland K. Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid. Clin. Chem. 54 (2008) 633-641
16. Van Der Heyden J.C., Rotteveel J.J., and Wevers R.A. Decreased homovanillic acid concentrations in cerebrospinal fluid in children without a known defect in dopamine metabolism. Eur. J. Paediatr. Neurol. 7 (2003) 31-37
17. Garcia-Cazorla A., Serrano M., Perez-Duenas B., Gonzalez V., Ormazabal A., Pineda M., Fernandez-Alvarez E., Campistol J.M., and Artuch R.M. Secondary abnormalities of neurotransmitters in infants with neurological disorders. Dev. Med. Child Neurol. 49 (2007) 740-744
18. Brautigam C., Weykamp C., Hoffmann G.F., and Wevers R.A. Neurotransmitter metabolites in CSF: an external quality control scheme. J. Inherit. Metab. Dis. 25 (2002) 287-298
19. van den Heuvel L.P., Luiten B., Smeitink J.A., de Rijk-van Andel J.F., Hyland K., Steenbergen-Spanjers G.C., Janssen R.J., and Wevers R.A. A common point mutation in the tyrosine hydroxylase gene in autosomal recessive l-DOPA-responsive dystonia in the Dutch population. Hum. Genet. 102 (1998) 644-646
20. Wevers R.A., de Rijk-van Andel J.F., Brautigam C., Geurtz B., van den Heuvel L.P., Steenbergen-Spanjers G.C., Smeitink J.A., Hoffmann G.F., and Gabreels F.J. A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC). J. Inherit. Metab. Dis. 22 (1999) 364-373
21. Verbeek M.M., Steenbergen-Spanjers G.C., Willemsen M.A., Hol F.A., Smeitink J., Seeger J., Grattan-Smith P., Ryan M.M., Hoffmann G.F., Donati M.A., Blau N., and Wevers R.A. Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene. Ann. Neurol. 62 (2007) 422-426
22. Ribases M., Serrano M., Fernandez-Alvarez E., Pahisa S., Ormazabal A., Garcia-Cazorla A., Perez-Duenas B., Campistol J., Artuch R., and Cormand B. A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Mol. Genet. Metab. 92 (2007) 274-277