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Article: Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
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TitleExpanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
 
AuthorsYeung, WL5 3
Wong, VCN1
Chan, KY2
Hui, J3
Fung, CW1
Yau, E2
Ko, CH6
Lam, CW1
Mak, CM2
Siu, S4
Low, L1
 
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
 
CitationJournal Of Child Neurology, 2011, v. 26 n. 2, p. 179-187 [How to Cite?]
DOI: http://dx.doi.org/10.1177/0883073810377014
 
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).
 
ISSN0883-0738
2013 Impact Factor: 1.666
 
DOIhttp://dx.doi.org/10.1177/0883073810377014
 
ISI Accession Number IDWOS:000286834000008
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.

 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorYeung, WL
 
dc.contributor.authorWong, VCN
 
dc.contributor.authorChan, KY
 
dc.contributor.authorHui, J
 
dc.contributor.authorFung, CW
 
dc.contributor.authorYau, E
 
dc.contributor.authorKo, CH
 
dc.contributor.authorLam, CW
 
dc.contributor.authorMak, CM
 
dc.contributor.authorSiu, S
 
dc.contributor.authorLow, L
 
dc.date.accessioned2011-07-27T01:33:35Z
 
dc.date.available2011-07-27T01:33:35Z
 
dc.date.issued2011
 
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).
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationJournal Of Child Neurology, 2011, v. 26 n. 2, p. 179-187 [How to Cite?]
DOI: http://dx.doi.org/10.1177/0883073810377014
 
dc.identifier.doihttp://dx.doi.org/10.1177/0883073810377014
 
dc.identifier.epage187
 
dc.identifier.hkuros186269
 
dc.identifier.hkuros192470
 
dc.identifier.isiWOS:000286834000008
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.

 
dc.identifier.issn0883-0738
2013 Impact Factor: 1.666
 
dc.identifier.issue2
 
dc.identifier.openurl
 
dc.identifier.pmid20823027
 
dc.identifier.scopuseid_2-s2.0-79551652126
 
dc.identifier.spage179
 
dc.identifier.urihttp://hdl.handle.net/10722/135321
 
dc.identifier.volume26
 
dc.languageeng
 
dc.publisherSage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.com
 
dc.publisher.placeUnited States
 
dc.relation.ispartofJournal of Child Neurology
 
dc.relation.referencesReferences in Scopus
 
dc.rightsJournal of Child Neurology. Copyright © Sage Publications, Inc.
 
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.subjectcerebrospinal fluid neurotransmitters
 
dc.subjectchildren
 
dc.subjectdopa-responsive dystonia
 
dc.subjecttyrosine hydroxylase deficiency
 
dc.titleExpanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
 
dc.typeArticle
 
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<contributor.author>Fung, CW</contributor.author>
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Author Affiliations
  1. The University of Hong Kong
  2. Princess Margaret Hospital Hong Kong
  3. Prince of Wales Hospital Hong Kong
  4. Queen Mary Hospital Hong Kong
  5. Alice Ho Miu Ling Nethersole Hospital
  6. Caritas Medical Centre Hong Kong