Mental retardation and inborn errors of metabolism
Summary In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. Howe...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2009-10, Vol.32 (5), p.597-608 |
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| creator | García-Cazorla, A. Wolf, N. I. Serrano, M. Moog, U. Pérez-Dueñas, B. Póo, P. Pineda, M. Campistol, J. Hoffmann, G. F. |
| description | Summary
In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment. |
| doi_str_mv | 10.1007/s10545-009-0922-5 |
| format | Article |
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In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-009-0922-5</identifier><identifier>PMID: 19685154</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Algorithms ; Biochemistry ; Human Genetics ; Humans ; Infant, Newborn ; Intellectual Disability - diagnosis ; Intellectual Disability - etiology ; Internal Medicine ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Metabolism, Inborn Errors - complications ; Metabolism, Inborn Errors - diagnosis ; Metabolism, Inborn Errors - psychology ; Neonatal Screening - methods ; Pediatrics ; Practice Guidelines as Topic ; Review</subject><ispartof>Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.597-608</ispartof><rights>Springer Science+Business Media B.V. 2009</rights><rights>2009 SSIEM</rights><rights>SSIEM and Springer 2009</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4927-442734145ee025dff1f96cee2530187fa9fef6e23ed666aa5cf6293b588c3f663</citedby><cites>FETCH-LOGICAL-c4927-442734145ee025dff1f96cee2530187fa9fef6e23ed666aa5cf6293b588c3f663</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10545-009-0922-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10545-009-0922-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>315,781,785,1418,27929,27930,41493,42562,45579,45580,51324</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/19685154$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>García-Cazorla, A.</creatorcontrib><creatorcontrib>Wolf, N. I.</creatorcontrib><creatorcontrib>Serrano, M.</creatorcontrib><creatorcontrib>Moog, U.</creatorcontrib><creatorcontrib>Pérez-Dueñas, B.</creatorcontrib><creatorcontrib>Póo, P.</creatorcontrib><creatorcontrib>Pineda, M.</creatorcontrib><creatorcontrib>Campistol, J.</creatorcontrib><creatorcontrib>Hoffmann, G. F.</creatorcontrib><title>Mental retardation and inborn errors of metabolism</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><addtitle>J Inherit Metab Dis</addtitle><description>Summary
In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.</description><subject>Algorithms</subject><subject>Biochemistry</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - etiology</subject><subject>Internal Medicine</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Metabolism, Inborn Errors - complications</subject><subject>Metabolism, Inborn Errors - diagnosis</subject><subject>Metabolism, Inborn Errors - psychology</subject><subject>Neonatal Screening - methods</subject><subject>Pediatrics</subject><subject>Practice Guidelines as Topic</subject><subject>Review</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqF0EtrGzEUBWBRWmrH6Q_oJgxdpKtp9bp6LIOTpgk22SRrIc9clTEzo0SyCf73VRhDoJBmpc13DleHkK-M_mCU6p-ZUZBQU2prajmv4QOZM9Ci5krBRzKnTLLaWIAZOcl5Sws0AJ_JjFllgIGcE77Gcef7KuHOp9bvujhWfmyrbtzENFaYUky5iqEaCtjEvsvDKfkUfJ_xy_FdkIdfV_fL3_Xq7vpmebGqG2m5rqXkWkgmAZFyaENgwaoGkYOgzOjgbcCgkAtslVLeQxMUt2IDxjQiKCUW5PvU-5ji0x7zzg1dbrDv_Yhxn50WQhurlSzy_L-SM6a5oLzAb__AbdynsfyiGGOkkdwUxCbUpJhzwuAeUzf4dHCMupfd3bS7K3O6l90dlMzZsXi_GbB9TRyHLkBP4Lnr8fB-o7u9WV9SsLok-ZTMJTT-wfR689v3_AW1fpvU</recordid><startdate>200910</startdate><enddate>200910</enddate><creator>García-Cazorla, A.</creator><creator>Wolf, N. 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I.</au><au>Serrano, M.</au><au>Moog, U.</au><au>Pérez-Dueñas, B.</au><au>Póo, P.</au><au>Pineda, M.</au><au>Campistol, J.</au><au>Hoffmann, G. F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mental retardation and inborn errors of metabolism</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2009-10</date><risdate>2009</risdate><volume>32</volume><issue>5</issue><spage>597</spage><epage>608</epage><pages>597-608</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>Summary
In countries where clinical phenylketonuria is detected by newborn screening inborn errors of metabolism are rare causes of isolated mental retardation. There is no international agreement about what type of metabolic tests must be applied in patients with unspecific mental retardation. However, and although infrequent, there are a number of inborn errors of metabolism that can present in this way. Because of the high recurrence risk and the possibility of specific therapies, guidelines need to be developed and adapted to different populations. The application of a universal protocol may result in a low diagnostic performance in individual ethnic populations. Consideration of associated signs (extraneurological manifestations, psychiatric signs, autistic traits, cerebellar dysfunction, epilepsy or dysmorphic traits) greatly improves the diagnostic fulfilment.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>19685154</pmid><doi>10.1007/s10545-009-0922-5</doi><tpages>12</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Algorithms Biochemistry Human Genetics Humans Infant, Newborn Intellectual Disability - diagnosis Intellectual Disability - etiology Internal Medicine Medicine Medicine & Public Health Metabolic Diseases Metabolism, Inborn Errors - complications Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - psychology Neonatal Screening - methods Pediatrics Practice Guidelines as Topic Review |
| title | Mental retardation and inborn errors of metabolism |
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