Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening
To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall. We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and...
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| Veröffentlicht in: | Clinical biochemistry 2007-11, Vol.40 (16), p.1328-1331 |
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| creator | Arias, Angela Corbella, Marc Fons, Carmen Sempere, Angela García-Villoria, Judit Ormazabal, Aida Poo, Pilar Pineda, Mercé Vilaseca, María Antonia Campistol, Jaume Briones, Paz Pàmpols, Teresa Salomons, Gajja S. Ribes, Antonia Artuch, Rafael |
| description | To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall.
We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism. Urine creatine was analyzed by HPLC-MS/MS.
Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio. Four out of these thirty-three cases were definitively diagnosed with creatine transporter deficiency, while the other 29 were false positive results. Significantly higher values were observed for urine Cr/Crn ratio in healthy volunteers after a meal based on beef or oily fish as compared to eggs, pasta or salad (Wilcoxon test:
p
<
0.005).
False positive results may be observed in biochemical screening for creatine transporter deficiency, and they may be due to intake of meals rich in creatine prior to urine samples analysis. |
| doi_str_mv | 10.1016/j.clinbiochem.2007.07.010 |
| format | Article |
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We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism. Urine creatine was analyzed by HPLC-MS/MS.
Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio. Four out of these thirty-three cases were definitively diagnosed with creatine transporter deficiency, while the other 29 were false positive results. Significantly higher values were observed for urine Cr/Crn ratio in healthy volunteers after a meal based on beef or oily fish as compared to eggs, pasta or salad (Wilcoxon test:
p
<
0.005).
False positive results may be observed in biochemical screening for creatine transporter deficiency, and they may be due to intake of meals rich in creatine prior to urine samples analysis.</description><identifier>ISSN: 0009-9120</identifier><identifier>EISSN: 1873-2933</identifier><identifier>DOI: 10.1016/j.clinbiochem.2007.07.010</identifier><identifier>PMID: 17825809</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Autistic Disorder - genetics ; Autistic Disorder - urine ; Cerebral creatine deficiency syndrome ; Child ; Child, Preschool ; Creatine ; Creatine - urine ; Creatine transporter deficiency ; Creatinine ; Creatinine - urine ; Glycine - analogs & derivatives ; Glycine - metabolism ; Guanidinoacetate ; Humans ; Infant ; Intellectual Disability - genetics ; Intellectual Disability - urine ; Male ; Mass Screening - methods ; Membrane Transport Proteins - deficiency ; Membrane Transport Proteins - genetics ; Metabolism, Inborn Errors - diagnosis ; Metabolism, Inborn Errors - genetics ; Metabolism, Inborn Errors - metabolism ; Reproducibility of Results ; Sensitivity and Specificity</subject><ispartof>Clinical biochemistry, 2007-11, Vol.40 (16), p.1328-1331</ispartof><rights>2007 The Canadian Society of Clinical Chemists</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c431t-5510796f91777bd19df006ffaa143730a98b7fd1adb597f056bc0dec80bee093</citedby><cites>FETCH-LOGICAL-c431t-5510796f91777bd19df006ffaa143730a98b7fd1adb597f056bc0dec80bee093</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0009912007002925$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27903,27904,65309</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17825809$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Arias, Angela</creatorcontrib><creatorcontrib>Corbella, Marc</creatorcontrib><creatorcontrib>Fons, Carmen</creatorcontrib><creatorcontrib>Sempere, Angela</creatorcontrib><creatorcontrib>García-Villoria, Judit</creatorcontrib><creatorcontrib>Ormazabal, Aida</creatorcontrib><creatorcontrib>Poo, Pilar</creatorcontrib><creatorcontrib>Pineda, Mercé</creatorcontrib><creatorcontrib>Vilaseca, María Antonia</creatorcontrib><creatorcontrib>Campistol, Jaume</creatorcontrib><creatorcontrib>Briones, Paz</creatorcontrib><creatorcontrib>Pàmpols, Teresa</creatorcontrib><creatorcontrib>Salomons, Gajja S.</creatorcontrib><creatorcontrib>Ribes, Antonia</creatorcontrib><creatorcontrib>Artuch, Rafael</creatorcontrib><title>Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening</title><title>Clinical biochemistry</title><addtitle>Clin Biochem</addtitle><description>To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall.
We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism. Urine creatine was analyzed by HPLC-MS/MS.
Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio. Four out of these thirty-three cases were definitively diagnosed with creatine transporter deficiency, while the other 29 were false positive results. Significantly higher values were observed for urine Cr/Crn ratio in healthy volunteers after a meal based on beef or oily fish as compared to eggs, pasta or salad (Wilcoxon test:
p
<
0.005).
False positive results may be observed in biochemical screening for creatine transporter deficiency, and they may be due to intake of meals rich in creatine prior to urine samples analysis.</description><subject>Autistic Disorder - genetics</subject><subject>Autistic Disorder - urine</subject><subject>Cerebral creatine deficiency syndrome</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Creatine</subject><subject>Creatine - urine</subject><subject>Creatine transporter deficiency</subject><subject>Creatinine</subject><subject>Creatinine - urine</subject><subject>Glycine - analogs & derivatives</subject><subject>Glycine - metabolism</subject><subject>Guanidinoacetate</subject><subject>Humans</subject><subject>Infant</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - urine</subject><subject>Male</subject><subject>Mass Screening - methods</subject><subject>Membrane Transport Proteins - deficiency</subject><subject>Membrane Transport Proteins - genetics</subject><subject>Metabolism, Inborn Errors - diagnosis</subject><subject>Metabolism, Inborn Errors - genetics</subject><subject>Metabolism, Inborn Errors - metabolism</subject><subject>Reproducibility of Results</subject><subject>Sensitivity and Specificity</subject><issn>0009-9120</issn><issn>1873-2933</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkd9rFDEQgIMo9lr9FyS--LbnJPsjG9_kqFoo6EPfQzaZtDl2kzXJtfS_N-cd6JvCwEyYbzIwHyHvGWwZsOHjfmtmHyYfzQMuWw4gtsdg8IJs2Cjahsu2fUk2ACAbyThckMuc9_XJu3F4TS6YGHk_gtyQp11CXXxAWpIOeY2pYKIWnTceg3n-RH8kfNRzrZHqJYZ7ulYeQ8n0yZcHutRSzzRh0cnWTgxUB0tXX5ye50x9qEjRU5x9QZpNQgw-3L8hr2o_49tzviJ3X67vdt-a2-9fb3afbxvTtaw0fc9AyMFJJoSYLJPWAQzOac26VrSg5TgJZ5m2Uy-Fg36YDFg0I0yIINsr8uH07ZrizwPmohafDc6zDhgPWQ1jxwQTwz9BDh3nI-8qKE-gSTHnhE6tyS86PSsG6mhH7dVfdtTRjjoGgzr77rzkMC1o_0yedVRgdwKwnuTRY1L5twa0PqEpykb_H2t-Ae4Rqcs</recordid><startdate>20071101</startdate><enddate>20071101</enddate><creator>Arias, Angela</creator><creator>Corbella, Marc</creator><creator>Fons, Carmen</creator><creator>Sempere, Angela</creator><creator>García-Villoria, Judit</creator><creator>Ormazabal, Aida</creator><creator>Poo, Pilar</creator><creator>Pineda, Mercé</creator><creator>Vilaseca, María Antonia</creator><creator>Campistol, Jaume</creator><creator>Briones, Paz</creator><creator>Pàmpols, Teresa</creator><creator>Salomons, Gajja S.</creator><creator>Ribes, Antonia</creator><creator>Artuch, Rafael</creator><general>Elsevier Inc</general><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>7TK</scope><scope>7X8</scope></search><sort><creationdate>20071101</creationdate><title>Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening</title><author>Arias, Angela ; Corbella, Marc ; Fons, Carmen ; Sempere, Angela ; García-Villoria, Judit ; Ormazabal, Aida ; Poo, Pilar ; Pineda, Mercé ; Vilaseca, María Antonia ; Campistol, Jaume ; Briones, Paz ; Pàmpols, Teresa ; Salomons, Gajja S. ; Ribes, Antonia ; Artuch, Rafael</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c431t-5510796f91777bd19df006ffaa143730a98b7fd1adb597f056bc0dec80bee093</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Autistic Disorder - genetics</topic><topic>Autistic Disorder - urine</topic><topic>Cerebral creatine deficiency syndrome</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Creatine</topic><topic>Creatine - urine</topic><topic>Creatine transporter deficiency</topic><topic>Creatinine</topic><topic>Creatinine - urine</topic><topic>Glycine - analogs & derivatives</topic><topic>Glycine - metabolism</topic><topic>Guanidinoacetate</topic><topic>Humans</topic><topic>Infant</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - urine</topic><topic>Male</topic><topic>Mass Screening - methods</topic><topic>Membrane Transport Proteins - deficiency</topic><topic>Membrane Transport Proteins - genetics</topic><topic>Metabolism, Inborn Errors - diagnosis</topic><topic>Metabolism, Inborn Errors - genetics</topic><topic>Metabolism, Inborn Errors - metabolism</topic><topic>Reproducibility of Results</topic><topic>Sensitivity and Specificity</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Arias, Angela</creatorcontrib><creatorcontrib>Corbella, Marc</creatorcontrib><creatorcontrib>Fons, Carmen</creatorcontrib><creatorcontrib>Sempere, Angela</creatorcontrib><creatorcontrib>García-Villoria, Judit</creatorcontrib><creatorcontrib>Ormazabal, Aida</creatorcontrib><creatorcontrib>Poo, Pilar</creatorcontrib><creatorcontrib>Pineda, Mercé</creatorcontrib><creatorcontrib>Vilaseca, María Antonia</creatorcontrib><creatorcontrib>Campistol, Jaume</creatorcontrib><creatorcontrib>Briones, Paz</creatorcontrib><creatorcontrib>Pàmpols, Teresa</creatorcontrib><creatorcontrib>Salomons, Gajja S.</creatorcontrib><creatorcontrib>Ribes, Antonia</creatorcontrib><creatorcontrib>Artuch, Rafael</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical biochemistry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Arias, Angela</au><au>Corbella, Marc</au><au>Fons, Carmen</au><au>Sempere, Angela</au><au>García-Villoria, Judit</au><au>Ormazabal, Aida</au><au>Poo, Pilar</au><au>Pineda, Mercé</au><au>Vilaseca, María Antonia</au><au>Campistol, Jaume</au><au>Briones, Paz</au><au>Pàmpols, Teresa</au><au>Salomons, Gajja S.</au><au>Ribes, Antonia</au><au>Artuch, Rafael</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening</atitle><jtitle>Clinical biochemistry</jtitle><addtitle>Clin Biochem</addtitle><date>2007-11-01</date><risdate>2007</risdate><volume>40</volume><issue>16</issue><spage>1328</spage><epage>1331</epage><pages>1328-1331</pages><issn>0009-9120</issn><eissn>1873-2933</eissn><abstract>To report the prevalence of creatine transporter deficiency in males with mental retardation and to study whether a protein-rich food intake might be a potential diagnostic pitfall.
We determined creatine/creatinine ratio in urine samples from 1600 unrelated male patients with mental retardation and/or autism. Urine creatine was analyzed by HPLC-MS/MS.
Thirty-three of 1600 cases showed increased urine creatine/creatinine ratio. Four out of these thirty-three cases were definitively diagnosed with creatine transporter deficiency, while the other 29 were false positive results. Significantly higher values were observed for urine Cr/Crn ratio in healthy volunteers after a meal based on beef or oily fish as compared to eggs, pasta or salad (Wilcoxon test:
p
<
0.005).
False positive results may be observed in biochemical screening for creatine transporter deficiency, and they may be due to intake of meals rich in creatine prior to urine samples analysis.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>17825809</pmid><doi>10.1016/j.clinbiochem.2007.07.010</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0009-9120 |
| ispartof | Clinical biochemistry, 2007-11, Vol.40 (16), p.1328-1331 |
| issn | 0009-9120 1873-2933 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_68417176 |
| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Autistic Disorder - genetics Autistic Disorder - urine Cerebral creatine deficiency syndrome Child Child, Preschool Creatine Creatine - urine Creatine transporter deficiency Creatinine Creatinine - urine Glycine - analogs & derivatives Glycine - metabolism Guanidinoacetate Humans Infant Intellectual Disability - genetics Intellectual Disability - urine Male Mass Screening - methods Membrane Transport Proteins - deficiency Membrane Transport Proteins - genetics Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - genetics Metabolism, Inborn Errors - metabolism Reproducibility of Results Sensitivity and Specificity |
| title | Creatine transporter deficiency: Prevalence among patients with mental retardation and pitfalls in metabolite screening |
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