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Article: Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency

TitleExpanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
Authors
Keywordscerebrospinal fluid neurotransmitters
children
dopa-responsive dystonia
tyrosine hydroxylase deficiency
Issue Date2011
PublisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.com
Citation
Journal Of Child Neurology, 2011, v. 26 n. 2, p. 179-187 How to Cite?
AbstractThis study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age. Patients with the severe type had encephalopathy with poor treatment response or infantile parkinsonism with motor delay. Patients with the less common mild type had dopa-responsive dystonia or a newly recognized predominant symptom of myopathy. Female siblings had more severe phenotypes. The phenotype and treatment outcomes were strongly related to a homovanillic acid level and homovanillic acid/5-hydroxyindolacetic acid ratio of less than 1 in the cerebrospinal fluid. Hyperprolactinemia was found in 50% of the severe cases. Levodopa was the mainstay of treatment, and early addition of selegiline resulted in a remarkable response in some patients. Treatment response for mild-type patients is universally good even with a treatment delay of 10 years after onset of neurological symptoms. © 2011 The Author(s).
Persistent Identifierhttp://hdl.handle.net/10722/135321
ISSN
2014 Impact Factor: 1.717
ISI Accession Number ID
Funding AgencyGrant Number
Italian Women's Association
Australian Association of Hong Kong Limited
Parthenon Trust
Funding Information:

We thank the Society for the Relief of Disabled Children in soliciting donations for purchasing machines for the analysis of the cerebrospinal fluid neurotransmitters as a pilot project for diagnosis of neurometabolic diseases in Hong Kong. The donations were designated for the Division of Child Neurology, Department of Paediatrics and Adolescent Medicine, The Duchess of Kent Children's Hospital, to establish diagnostic workup for neurotransmitter diseases in Hong Kong. These machines have been installed in the Division of Clinical Biochemistry, Queen Mary Hospital, under Hospital Authority: high-performance liquid chromatography with electrochemical detector and high-performance liquid chromatography-fluorescence detector. These donations were from the following groups (2005-2007): the Italian Women's Association, Australian Association of Hong Kong Limited, and Parthenon Trust.

References

 

DC FieldValueLanguage
dc.contributor.authorYeung, WLen_HK
dc.contributor.authorWong, VCNen_HK
dc.contributor.authorChan, KYen_HK
dc.contributor.authorHui, Jen_HK
dc.contributor.authorFung, CWen_HK
dc.contributor.authorYau, Een_HK
dc.contributor.authorKo, CHen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorMak, CMen_HK
dc.contributor.authorSiu, Sen_HK
dc.contributor.authorLow, Len_HK
dc.date.accessioned2011-07-27T01:33:35Z-
dc.date.available2011-07-27T01:33:35Z-
dc.date.issued2011en_HK
dc.identifier.citationJournal Of Child Neurology, 2011, v. 26 n. 2, p. 179-187en_HK
dc.identifier.issn0883-0738en_HK
dc.identifier.urihttp://hdl.handle.net/10722/135321-
dc.description.abstractThis study included 12 Chinese patients with a wide spectrum of phenotypes of tyrosine hydroxylase deficiency. Seven females and 5 males, aged 2.2 to 41 years, had phenotypes ranging from severe type with onset at infancy to mild type with onset after 3 years of age. Patients with the severe type had encephalopathy with poor treatment response or infantile parkinsonism with motor delay. Patients with the less common mild type had dopa-responsive dystonia or a newly recognized predominant symptom of myopathy. Female siblings had more severe phenotypes. The phenotype and treatment outcomes were strongly related to a homovanillic acid level and homovanillic acid/5-hydroxyindolacetic acid ratio of less than 1 in the cerebrospinal fluid. Hyperprolactinemia was found in 50% of the severe cases. Levodopa was the mainstay of treatment, and early addition of selegiline resulted in a remarkable response in some patients. Treatment response for mild-type patients is universally good even with a treatment delay of 10 years after onset of neurological symptoms. © 2011 The Author(s).en_HK
dc.languageengen_US
dc.publisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.comen_HK
dc.relation.ispartofJournal of Child Neurologyen_HK
dc.rightsJournal of Child Neurology. Copyright © Sage Publications, Inc.en_US
dc.subjectcerebrospinal fluid neurotransmittersen_HK
dc.subjectchildrenen_HK
dc.subjectdopa-responsive dystoniaen_HK
dc.subjecttyrosine hydroxylase deficiencyen_HK
dc.subject.meshDeficiency Diseases - drug therapy-
dc.subject.meshDopamine Agents - therapeutic use-
dc.subject.meshLevodopa - therapeutic use-
dc.subject.meshParkinsonian Disorders - drug therapy - genetics-
dc.subject.meshSelegiline - therapeutic use-
dc.titleExpanding phenotype and clinical analysis of tyrosine hydroxylase deficiencyen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0883-0738&volume=26&issue=2&spage=179&epage=187&date=2011&atitle=Expanding+phenotype+and+clinical+analysis+of+tyrosine+hydroxylase+deficiencyen_US
dc.identifier.emailWong, VCN: vcnwong@hku.hken_HK
dc.identifier.emailLam, CW: cwlam8@hku.hken_HK
dc.identifier.emailLow, L: lcklow@hkucc.hku.hken_HK
dc.identifier.authorityWong, VCN=rp00334en_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.identifier.authorityLow, L=rp00337en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1177/0883073810377014en_HK
dc.identifier.pmid20823027-
dc.identifier.scopuseid_2-s2.0-79551652126en_HK
dc.identifier.hkuros186269en_US
dc.identifier.hkuros192470en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79551652126&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume26en_HK
dc.identifier.issue2en_HK
dc.identifier.spage179en_HK
dc.identifier.epage187en_HK
dc.identifier.isiWOS:000286834000008-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridYeung, WL=7102370747en_HK
dc.identifier.scopusauthoridWong, VCN=7202525632en_HK
dc.identifier.scopusauthoridChan, KY=36985741000en_HK
dc.identifier.scopusauthoridHui, J=7102160023en_HK
dc.identifier.scopusauthoridFung, CW=7102443761en_HK
dc.identifier.scopusauthoridYau, E=36750314300en_HK
dc.identifier.scopusauthoridKo, CH=23497325200en_HK
dc.identifier.scopusauthoridLam, CW=34570692600en_HK
dc.identifier.scopusauthoridMak, CM=34971727200en_HK
dc.identifier.scopusauthoridSiu, S=7006115274en_HK
dc.identifier.scopusauthoridLow, L=7007049461en_HK

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