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Conference Paper: Spectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong

TitleSpectrum of mitochondrial diseases in a tertiary referral centre in Hong Kong
Authors
KeywordsMedical sciences
Pediatrics medical sciences
Psychiatry and neurology
Issue Date2012
PublisherMac Keith Press. The Journal's web site is located at http://www.mackeith.co.uk/journal.html
Citation
The Joint 12th International Child Neurology Congress (ICNC 2012) and the 11th Asian and Oceanian Congress of Child Neurology, Brisbane, Australia, 27 May-1 June 2012. In Developmental Medicine and Child Neurology, 2012, v. 54 suppl. s4, p. 30, abstract C1-0014 How to Cite?
AbstractOBJECTIVE: This study set out to examine the spectrum of mitochondrial diseases in a tertiary centre in Hong Kong. DESIGN: Retrospective cohort study. METHOD: A retrospective medical record review was undertaken for all patients with mitochondrial diseases seen in a tertiary referral centre in Hong Kong from 1995 to 2011. Results: Thirty-three patients were included, 21/33 (64%) suffered from a well-defined mitochondrial syndrome. The commonest clinical syndrome was Leigh disease (n=9, 27%). Three had complex IV deficiency. Mutation in the SURF1 gene was found in one patient, one had complex I deficiency and one had combined complex I and IV deficiency. The second commonest syndrome was mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS, n=7, 21%). Only 2/7 carried the typical A3243G mutation. Of the non-syndromic patients, three had complex I deficiency and two had complex IV deficiency. One had a POLG gene mutation. Biochemically, 91% (n=30) did not have a consistently raised lactate, 2 (6%) did not have hyperlactataemia at all. One patient with Leigh’s syndrome only had hyperlactataemia after glucose loading. Further genetic analysis of most patients is in progress. Significant mortality was found among the cohort (n=8, 24%). All of those who were A3243G negative have survived (n=4) but all of those with an A3243G mutation died (n=2). CONCLUSION: Most patients with mitochondrial disease in this tertiary centre did not have a consistently high blood lactate. A high index of suspicion is necessary in order for clinicians to diagnose mitochondrial diseases.
DescriptionThis journal suppl. is Special Issue: Abstracts of the 12th International Child Neurology Congress and the 11th Asian and Oceanian Congress of Child Neurology ... 2012 / Concurrent Poster Sessions - Stream C: Metabolic: C1-0014
Persistent Identifierhttp://hdl.handle.net/10722/153129
ISSN
2015 Impact Factor: 3.615
2015 SCImago Journal Rankings: 1.636

 

DC FieldValueLanguage
dc.contributor.authorFung, CWen_US
dc.contributor.authorSmeitenk, J-
dc.contributor.authorRodenburg, R-
dc.contributor.authorSiu, S-
dc.contributor.authorMa, O-
dc.contributor.authorPoon, G-
dc.contributor.authorTam, S-
dc.contributor.authorWong, V-
dc.date.accessioned2012-07-16T09:57:35Z-
dc.date.available2012-07-16T09:57:35Z-
dc.date.issued2012en_US
dc.identifier.citationThe Joint 12th International Child Neurology Congress (ICNC 2012) and the 11th Asian and Oceanian Congress of Child Neurology, Brisbane, Australia, 27 May-1 June 2012. In Developmental Medicine and Child Neurology, 2012, v. 54 suppl. s4, p. 30, abstract C1-0014en_US
dc.identifier.issn0012-1622-
dc.identifier.urihttp://hdl.handle.net/10722/153129-
dc.descriptionThis journal suppl. is Special Issue: Abstracts of the 12th International Child Neurology Congress and the 11th Asian and Oceanian Congress of Child Neurology ... 2012 / Concurrent Poster Sessions - Stream C: Metabolic: C1-0014-
dc.description.abstractOBJECTIVE: This study set out to examine the spectrum of mitochondrial diseases in a tertiary centre in Hong Kong. DESIGN: Retrospective cohort study. METHOD: A retrospective medical record review was undertaken for all patients with mitochondrial diseases seen in a tertiary referral centre in Hong Kong from 1995 to 2011. Results: Thirty-three patients were included, 21/33 (64%) suffered from a well-defined mitochondrial syndrome. The commonest clinical syndrome was Leigh disease (n=9, 27%). Three had complex IV deficiency. Mutation in the SURF1 gene was found in one patient, one had complex I deficiency and one had combined complex I and IV deficiency. The second commonest syndrome was mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS, n=7, 21%). Only 2/7 carried the typical A3243G mutation. Of the non-syndromic patients, three had complex I deficiency and two had complex IV deficiency. One had a POLG gene mutation. Biochemically, 91% (n=30) did not have a consistently raised lactate, 2 (6%) did not have hyperlactataemia at all. One patient with Leigh’s syndrome only had hyperlactataemia after glucose loading. Further genetic analysis of most patients is in progress. Significant mortality was found among the cohort (n=8, 24%). All of those who were A3243G negative have survived (n=4) but all of those with an A3243G mutation died (n=2). CONCLUSION: Most patients with mitochondrial disease in this tertiary centre did not have a consistently high blood lactate. A high index of suspicion is necessary in order for clinicians to diagnose mitochondrial diseases.-
dc.languageengen_US
dc.publisherMac Keith Press. The Journal's web site is located at http://www.mackeith.co.uk/journal.html-
dc.relation.ispartofDevelopmental Medicine and Child Neurologyen_US
dc.subjectMedical sciences-
dc.subjectPediatrics medical sciences-
dc.subjectPsychiatry and neurology-
dc.titleSpectrum of mitochondrial diseases in a tertiary referral centre in Hong Kongen_US
dc.typeConference_Paperen_US
dc.identifier.emailFung, CW: fcw1209m@hkucc.hku.hken_US
dc.identifier.emailPoon, G: pwkg@hkucc.hku.hk-
dc.identifier.emailWong, V: vcnwong@hku.hk-
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1111/j.1469-8749.2012.04283.x-
dc.identifier.hkuros200743en_US
dc.identifier.volume54-
dc.identifier.issuesuppl. s4-
dc.identifier.spage30-
dc.identifier.epage30-
dc.publisher.placeUnited Kingdom-
dc.customcontrol.immutablesml 130415-

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