Study of inherited metabolic disorders in Singapore - 13 years experience
Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience. Pa...
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| Veröffentlicht in: | Annals of the Academy of Medicine, Singapore Singapore, 2006-11, Vol.35 (11), p.804-813 |
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| creator | Tan, It-Koon Gajra, Bani Lim, Maria S F |
| description | Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience.
Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett- Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography.
Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13.
Positive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis. |
| doi_str_mv | 10.47102/annals-acadmedsg.v35n11p804 |
| format | Article |
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Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett- Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography.
Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13.
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Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett- Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography.
Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13.
Positive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Amino Acids - metabolism</subject><subject>Biomarkers - blood</subject><subject>Biomarkers - cerebrospinal fluid</subject><subject>Biomarkers - urine</subject><subject>Carbohydrates - blood</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Chromatography, Gas</subject><subject>Female</subject><subject>Follow-Up Studies</subject><subject>Glycosaminoglycans - metabolism</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Mass Spectrometry</subject><subject>Metabolism, Inborn Errors - epidemiology</subject><subject>Metabolism, Inborn Errors - metabolism</subject><subject>Middle Aged</subject><subject>Prevalence</subject><subject>Prognosis</subject><subject>Retrospective Studies</subject><subject>Singapore - epidemiology</subject><subject>Urea - metabolism</subject><issn>0304-4602</issn><issn>0304-4602</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkElPwzAQhS0EoqXwF1AOiFuKtziOxAVVLJUqOBS4Wl6mJSgbdoLov8ciFXCa0bz3ZkYfQhcEz3lOML3STaOrkGqrXQ0ubOefLGsI6STmB2iKGeYpF5ge_usn6CSEd4x5jqk4RhOSE4FJkU_Rct0Pbpe0m6Rs3sCXPbikhl6btipt4srQegc-RDVZl81Wd62HJE0IS3ag4xy-upiCxsIpOtrEv-BsX2fo5e72efGQrp7ul4ubVWo5J30qQWeUWaMzSSmVYDgmNs4KIzB2zNiCSypzLriQWLACjDMmo3nhaA6ZzdgMXY57O99-DBB6VZfBQlXpBtohKCEpo4Ug0Xg9Gq1vQ_CwUZ0va-13imD1g1KNKNUvSvXKsscRZYyf7-8MJop_4T079g3ex3VM</recordid><startdate>20061101</startdate><enddate>20061101</enddate><creator>Tan, It-Koon</creator><creator>Gajra, Bani</creator><creator>Lim, Maria S F</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20061101</creationdate><title>Study of inherited metabolic disorders in Singapore - 13 years experience</title><author>Tan, It-Koon ; Gajra, Bani ; Lim, Maria S F</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c441t-8ea523cba582228eb401cea59b600d3bc948287464680639ebdbb5279d27e5c53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2006</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Amino Acids - metabolism</topic><topic>Biomarkers - blood</topic><topic>Biomarkers - cerebrospinal fluid</topic><topic>Biomarkers - urine</topic><topic>Carbohydrates - blood</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Chromatography, Gas</topic><topic>Female</topic><topic>Follow-Up Studies</topic><topic>Glycosaminoglycans - metabolism</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Mass Spectrometry</topic><topic>Metabolism, Inborn Errors - epidemiology</topic><topic>Metabolism, Inborn Errors - metabolism</topic><topic>Middle Aged</topic><topic>Prevalence</topic><topic>Prognosis</topic><topic>Retrospective Studies</topic><topic>Singapore - epidemiology</topic><topic>Urea - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tan, It-Koon</creatorcontrib><creatorcontrib>Gajra, Bani</creatorcontrib><creatorcontrib>Lim, Maria S F</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of the Academy of Medicine, Singapore</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tan, It-Koon</au><au>Gajra, Bani</au><au>Lim, Maria S F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Study of inherited metabolic disorders in Singapore - 13 years experience</atitle><jtitle>Annals of the Academy of Medicine, Singapore</jtitle><addtitle>Ann Acad Med Singapore</addtitle><date>2006-11-01</date><risdate>2006</risdate><volume>35</volume><issue>11</issue><spage>804</spage><epage>813</epage><pages>804-813</pages><issn>0304-4602</issn><eissn>0304-4602</eissn><abstract>Recommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience.
Patients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett- Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography.
Of the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13.
Positive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis.</abstract><cop>Singapore</cop><pmid>17160197</pmid><doi>10.47102/annals-acadmedsg.v35n11p804</doi><tpages>10</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Amino Acids - metabolism Biomarkers - blood Biomarkers - cerebrospinal fluid Biomarkers - urine Carbohydrates - blood Child Child, Preschool Chromatography, Gas Female Follow-Up Studies Glycosaminoglycans - metabolism Humans Infant Infant, Newborn Male Mass Spectrometry Metabolism, Inborn Errors - epidemiology Metabolism, Inborn Errors - metabolism Middle Aged Prevalence Prognosis Retrospective Studies Singapore - epidemiology Urea - metabolism |
| title | Study of inherited metabolic disorders in Singapore - 13 years experience |
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