Article: Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency
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- Publisher Website: 10.1177/0883073810377014
- Scopus: eid_2-s2.0-79551652126
- PMID: 20823027
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| Title | Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Authors | Yeung, WL3 5 Wong, VCN1 Chan, KY2 Hui, J3 Fung, CW1 Yau, E2 Ko, CH6 Lam, CW1 Mak, CM2 Siu, S4 Low, L1 | ||||||||
| Keywords | cerebrospinal fluid neurotransmitters children dopa-responsive dystonia tyrosine hydroxylase deficiency | ||||||||
| Issue Date | 2011 | ||||||||
| Publisher | Sage 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?] DOI: http://dx.doi.org/10.1177/0883073810377014 | ||||||||
| Abstract | This 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). | ||||||||
| ISSN | 0883-0738 2011 Impact Factor: 1.748 2011 SCImago Journal Rankings: 0.143 | ||||||||
| DOI | http://dx.doi.org/10.1177/0883073810377014 | ||||||||
| ISI Accession Number ID | WOS:000286834000008
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 | References in Scopus |
| dc.contributor.author | Yeung, WL | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| dc.contributor.author | Wong, VCN | ||||||||
| dc.contributor.author | Chan, KY | ||||||||
| dc.contributor.author | Hui, J | ||||||||
| dc.contributor.author | Fung, CW | ||||||||
| dc.contributor.author | Yau, E | ||||||||
| dc.contributor.author | Ko, CH | ||||||||
| dc.contributor.author | Lam, CW | ||||||||
| dc.contributor.author | Mak, CM | ||||||||
| dc.contributor.author | Siu, S | ||||||||
| dc.contributor.author | Low, L | ||||||||
| dc.date.accessioned | 2011-07-27T01:33:35Z | ||||||||
| dc.date.available | 2011-07-27T01:33:35Z | ||||||||
| dc.date.issued | 2011 | ||||||||
| dc.description.abstract | This 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.nature | Link_to_subscribed_fulltext | ||||||||
| dc.identifier.citation | Journal Of Child Neurology, 2011, v. 26 n. 2, p. 179-187 [How to Cite?] DOI: http://dx.doi.org/10.1177/0883073810377014 | ||||||||
| dc.identifier.doi | http://dx.doi.org/10.1177/0883073810377014 | ||||||||
| dc.identifier.epage | 187 | ||||||||
| dc.identifier.hkuros | 186269 | ||||||||
| dc.identifier.hkuros | 192470 | ||||||||
| dc.identifier.isi | WOS:000286834000008
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.issn | 0883-0738 2011 Impact Factor: 1.748 2011 SCImago Journal Rankings: 0.143 | ||||||||
| dc.identifier.issue | 2 | ||||||||
| dc.identifier.openurl | | ||||||||
| dc.identifier.pmid | 20823027 | ||||||||
| dc.identifier.scopus | eid_2-s2.0-79551652126 | ||||||||
| dc.identifier.spage | 179 | ||||||||
| dc.identifier.uri | http://hdl.handle.net/10722/135321 | ||||||||
| dc.identifier.volume | 26 | ||||||||
| dc.language | eng | ||||||||
| dc.publisher | Sage Publications, Inc.. The Journal's web site is located at http://jcn.sagepub.com | ||||||||
| dc.publisher.place | United States | ||||||||
| dc.relation.ispartof | Journal of Child Neurology | ||||||||
| dc.relation.references | References in Scopus | ||||||||
| dc.rights | Journal of Child Neurology. Copyright © Sage Publications, Inc. | ||||||||
| dc.subject.mesh | Deficiency Diseases - drug therapy | ||||||||
| dc.subject.mesh | Dopamine Agents - therapeutic use | ||||||||
| dc.subject.mesh | Levodopa - therapeutic use | ||||||||
| dc.subject.mesh | Parkinsonian Disorders - drug therapy - genetics | ||||||||
| dc.subject.mesh | Selegiline - therapeutic use | ||||||||
| dc.subject | cerebrospinal fluid neurotransmitters | ||||||||
| dc.subject | children | ||||||||
| dc.subject | dopa-responsive dystonia | ||||||||
| dc.subject | tyrosine hydroxylase deficiency | ||||||||
| dc.title | Expanding phenotype and clinical analysis of tyrosine hydroxylase deficiency | ||||||||
| dc.type | Article |
- The University of Hong Kong
- Princess Margaret Hospital Hong Kong
- Prince of Wales Hospital Hong Kong
- Queen Mary Hospital Hong Kong
- Alice Ho Miu Ling Nethersole Hospital
- Caritas Medical Centre Hong Kong