Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening
Purpose: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classic infantile-onset or late-onset Pompe diseas...
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| Veröffentlicht in: | JIMD Reports, Volume 19 Volume 19, 2015-01, Vol.19, p.67-73 |
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| creator | Chien, Yin-Hsiu Goldstein, Jennifer L. Hwu, Wuh-Liang Smith, P. Brian Lee, Ni-Chung Chiang, Shu-Chuan Tolun, Adviye A. Zhang, Haoyue Vaisnins, Amie E. Millington, David S. Kishnani, Priya S. Young, Sarah P. |
| description | Purpose: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classic infantile-onset or late-onset Pompe disease, and those with a pseudodeficiency of acid alpha-glucosidase (GAA), identified through newborn screening (NBS) in Taiwan.
Methods: Infants identified through NBS with (1) classic infantile-onset Pompe disease (NBS-IOPD) (n = 7) defined as patients with evidence for hypertrophic cardiomyopathy by EKG, X-ray, and echocardiogram, (2) a late-onset phenotype (NBS-LOPD) (n = 13) defined as patients without evidence for cardiomyopathy, (3) a GAA pseudodeficiency (n = 58), and (4) one patient with LOPD diagnosed in infancy due to family history were consented to the study. Four infants diagnosed after the onset of clinical symptoms (CLIN-IOPD) were included for comparison. Glc4 concentrations in dried urine samples on filter paper were determined using tandem mass spectrometry.
Results: Baseline Glc4 concentrations were at or above the 90th centile of the age-matched reference range for the NBS-IOPD cohort. The median Glc4 level for this group was lower than that of the CLIN-IOPD group, although not at the level of significance (p = 0.07), but was significantly higher than that of the NBS-LOPD group (p |
| doi_str_mv | 10.1007/8904_2014_366 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4501239</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1696680382</sourcerecordid><originalsourceid>FETCH-LOGICAL-c385t-cc095b1453004920c269f2d48b0f072d1c0821a3123822daea007e3cdfb12ebd3</originalsourceid><addsrcrecordid>eNpVUk1vEzEQNRREq5IjV-RjJbRl7P2yL0g0lBIpopVoz5bXnk0MGzusN1T9F_zkDkqpWl88mvf8nuZ5GHsn4FQAtB-VhspIEJUpm-YFm-lWUSGrRmhoX7IjKbQsVCnkwVNMafHqEYPqkM1y_gl0GiCt9g07lHWjBCh5xP6e2YxDiMhvxhDteMcvhp1LGfk1TqPN1rm1HYNHPk_RYaTeFFLMPER-RSV1Mr8N05ovYm_jFAYsuI2eL-2ExWXMOPGrtNki_xIykhdfeHoT-oCed3f8O952aYz8hxsRY4irt-x1b4eMs4f7mN18Pb-efyuWlxeL-edl4UpVT4VzoOtOVHUJUGkJTja6l75SHfTQSi8cjScsRVMqKb1FS3li6XzfCYmdL4_Zp73udtdt0O9HG8x2DBtKwSQbzHMkhrVZpT-mqoFENQmcPAiM6fcO82Q2ITscBhsx7bIRjW4aBWRP1PdPvR5N_n8DET7sCZmguMLRdCn9Ig0w__bAPNuD8h509qAA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1696680382</pqid></control><display><type>article</type><title>Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening</title><source>PubMed Central</source><creator>Chien, Yin-Hsiu ; Goldstein, Jennifer L. ; Hwu, Wuh-Liang ; Smith, P. Brian ; Lee, Ni-Chung ; Chiang, Shu-Chuan ; Tolun, Adviye A. ; Zhang, Haoyue ; Vaisnins, Amie E. ; Millington, David S. ; Kishnani, Priya S. ; Young, Sarah P.</creator><contributor>Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima</contributor><creatorcontrib>Chien, Yin-Hsiu ; Goldstein, Jennifer L. ; Hwu, Wuh-Liang ; Smith, P. Brian ; Lee, Ni-Chung ; Chiang, Shu-Chuan ; Tolun, Adviye A. ; Zhang, Haoyue ; Vaisnins, Amie E. ; Millington, David S. ; Kishnani, Priya S. ; Young, Sarah P. ; Patterson, Marc ; Zschocke, Johannes ; Peters, Verena ; Baumgartner, Matthias ; Morava, Eva ; Rahman, Shamima</creatorcontrib><description>Purpose: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classic infantile-onset or late-onset Pompe disease, and those with a pseudodeficiency of acid alpha-glucosidase (GAA), identified through newborn screening (NBS) in Taiwan.
Methods: Infants identified through NBS with (1) classic infantile-onset Pompe disease (NBS-IOPD) (n = 7) defined as patients with evidence for hypertrophic cardiomyopathy by EKG, X-ray, and echocardiogram, (2) a late-onset phenotype (NBS-LOPD) (n = 13) defined as patients without evidence for cardiomyopathy, (3) a GAA pseudodeficiency (n = 58), and (4) one patient with LOPD diagnosed in infancy due to family history were consented to the study. Four infants diagnosed after the onset of clinical symptoms (CLIN-IOPD) were included for comparison. Glc4 concentrations in dried urine samples on filter paper were determined using tandem mass spectrometry.
Results: Baseline Glc4 concentrations were at or above the 90th centile of the age-matched reference range for the NBS-IOPD cohort. The median Glc4 level for this group was lower than that of the CLIN-IOPD group, although not at the level of significance (p = 0.07), but was significantly higher than that of the NBS-LOPD group (p < 0.05). Baseline Glc4 was not elevated for the NBS-LOPD and GAA pseudodeficiency cohorts and remained low for late-onset patients that did not require treatment before the age of three years.
Conclusion: Baseline urinary Glc4 is elevated in neonates with infantile-onset Pompe disease identified through NBS.</description><identifier>ISSN: 2192-8304</identifier><identifier>ISBN: 9783662461891</identifier><identifier>ISBN: 3662461897</identifier><identifier>EISSN: 2192-8312</identifier><identifier>EISBN: 9783662461907</identifier><identifier>EISBN: 3662461900</identifier><identifier>DOI: 10.1007/8904_2014_366</identifier><identifier>PMID: 25681082</identifier><language>eng</language><publisher>Berlin, Heidelberg: Springer Berlin Heidelberg</publisher><subject>Biomarker ; Glucose tetrasaccharide ; Newborn screening ; Pompe disease ; Tandem mass spectrometry</subject><ispartof>JIMD Reports, Volume 19, 2015-01, Vol.19, p.67-73</ispartof><rights>SSIEM and Springer-Verlag Berlin Heidelberg 2014</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c385t-cc095b1453004920c269f2d48b0f072d1c0821a3123822daea007e3cdfb12ebd3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501239/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501239/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,779,780,784,793,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25681082$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Patterson, Marc</contributor><contributor>Zschocke, Johannes</contributor><contributor>Peters, Verena</contributor><contributor>Baumgartner, Matthias</contributor><contributor>Morava, Eva</contributor><contributor>Rahman, Shamima</contributor><creatorcontrib>Chien, Yin-Hsiu</creatorcontrib><creatorcontrib>Goldstein, Jennifer L.</creatorcontrib><creatorcontrib>Hwu, Wuh-Liang</creatorcontrib><creatorcontrib>Smith, P. Brian</creatorcontrib><creatorcontrib>Lee, Ni-Chung</creatorcontrib><creatorcontrib>Chiang, Shu-Chuan</creatorcontrib><creatorcontrib>Tolun, Adviye A.</creatorcontrib><creatorcontrib>Zhang, Haoyue</creatorcontrib><creatorcontrib>Vaisnins, Amie E.</creatorcontrib><creatorcontrib>Millington, David S.</creatorcontrib><creatorcontrib>Kishnani, Priya S.</creatorcontrib><creatorcontrib>Young, Sarah P.</creatorcontrib><title>Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening</title><title>JIMD Reports, Volume 19</title><addtitle>JIMD Rep</addtitle><description>Purpose: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classic infantile-onset or late-onset Pompe disease, and those with a pseudodeficiency of acid alpha-glucosidase (GAA), identified through newborn screening (NBS) in Taiwan.
Methods: Infants identified through NBS with (1) classic infantile-onset Pompe disease (NBS-IOPD) (n = 7) defined as patients with evidence for hypertrophic cardiomyopathy by EKG, X-ray, and echocardiogram, (2) a late-onset phenotype (NBS-LOPD) (n = 13) defined as patients without evidence for cardiomyopathy, (3) a GAA pseudodeficiency (n = 58), and (4) one patient with LOPD diagnosed in infancy due to family history were consented to the study. Four infants diagnosed after the onset of clinical symptoms (CLIN-IOPD) were included for comparison. Glc4 concentrations in dried urine samples on filter paper were determined using tandem mass spectrometry.
Results: Baseline Glc4 concentrations were at or above the 90th centile of the age-matched reference range for the NBS-IOPD cohort. The median Glc4 level for this group was lower than that of the CLIN-IOPD group, although not at the level of significance (p = 0.07), but was significantly higher than that of the NBS-LOPD group (p < 0.05). Baseline Glc4 was not elevated for the NBS-LOPD and GAA pseudodeficiency cohorts and remained low for late-onset patients that did not require treatment before the age of three years.
Conclusion: Baseline urinary Glc4 is elevated in neonates with infantile-onset Pompe disease identified through NBS.</description><subject>Biomarker</subject><subject>Glucose tetrasaccharide</subject><subject>Newborn screening</subject><subject>Pompe disease</subject><subject>Tandem mass spectrometry</subject><issn>2192-8304</issn><issn>2192-8312</issn><isbn>9783662461891</isbn><isbn>3662461897</isbn><isbn>9783662461907</isbn><isbn>3662461900</isbn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><recordid>eNpVUk1vEzEQNRREq5IjV-RjJbRl7P2yL0g0lBIpopVoz5bXnk0MGzusN1T9F_zkDkqpWl88mvf8nuZ5GHsn4FQAtB-VhspIEJUpm-YFm-lWUSGrRmhoX7IjKbQsVCnkwVNMafHqEYPqkM1y_gl0GiCt9g07lHWjBCh5xP6e2YxDiMhvxhDteMcvhp1LGfk1TqPN1rm1HYNHPk_RYaTeFFLMPER-RSV1Mr8N05ovYm_jFAYsuI2eL-2ExWXMOPGrtNki_xIykhdfeHoT-oCed3f8O952aYz8hxsRY4irt-x1b4eMs4f7mN18Pb-efyuWlxeL-edl4UpVT4VzoOtOVHUJUGkJTja6l75SHfTQSi8cjScsRVMqKb1FS3li6XzfCYmdL4_Zp73udtdt0O9HG8x2DBtKwSQbzHMkhrVZpT-mqoFENQmcPAiM6fcO82Q2ITscBhsx7bIRjW4aBWRP1PdPvR5N_n8DET7sCZmguMLRdCn9Ig0w__bAPNuD8h509qAA</recordid><startdate>20150101</startdate><enddate>20150101</enddate><creator>Chien, Yin-Hsiu</creator><creator>Goldstein, Jennifer L.</creator><creator>Hwu, Wuh-Liang</creator><creator>Smith, P. Brian</creator><creator>Lee, Ni-Chung</creator><creator>Chiang, Shu-Chuan</creator><creator>Tolun, Adviye A.</creator><creator>Zhang, Haoyue</creator><creator>Vaisnins, Amie E.</creator><creator>Millington, David S.</creator><creator>Kishnani, Priya S.</creator><creator>Young, Sarah P.</creator><general>Springer Berlin Heidelberg</general><scope>NPM</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20150101</creationdate><title>Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening</title><author>Chien, Yin-Hsiu ; Goldstein, Jennifer L. ; Hwu, Wuh-Liang ; Smith, P. Brian ; Lee, Ni-Chung ; Chiang, Shu-Chuan ; Tolun, Adviye A. ; Zhang, Haoyue ; Vaisnins, Amie E. ; Millington, David S. ; Kishnani, Priya S. ; Young, Sarah P.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c385t-cc095b1453004920c269f2d48b0f072d1c0821a3123822daea007e3cdfb12ebd3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Biomarker</topic><topic>Glucose tetrasaccharide</topic><topic>Newborn screening</topic><topic>Pompe disease</topic><topic>Tandem mass spectrometry</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chien, Yin-Hsiu</creatorcontrib><creatorcontrib>Goldstein, Jennifer L.</creatorcontrib><creatorcontrib>Hwu, Wuh-Liang</creatorcontrib><creatorcontrib>Smith, P. Brian</creatorcontrib><creatorcontrib>Lee, Ni-Chung</creatorcontrib><creatorcontrib>Chiang, Shu-Chuan</creatorcontrib><creatorcontrib>Tolun, Adviye A.</creatorcontrib><creatorcontrib>Zhang, Haoyue</creatorcontrib><creatorcontrib>Vaisnins, Amie E.</creatorcontrib><creatorcontrib>Millington, David S.</creatorcontrib><creatorcontrib>Kishnani, Priya S.</creatorcontrib><creatorcontrib>Young, Sarah P.</creatorcontrib><collection>PubMed</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>JIMD Reports, Volume 19</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chien, Yin-Hsiu</au><au>Goldstein, Jennifer L.</au><au>Hwu, Wuh-Liang</au><au>Smith, P. Brian</au><au>Lee, Ni-Chung</au><au>Chiang, Shu-Chuan</au><au>Tolun, Adviye A.</au><au>Zhang, Haoyue</au><au>Vaisnins, Amie E.</au><au>Millington, David S.</au><au>Kishnani, Priya S.</au><au>Young, Sarah P.</au><au>Patterson, Marc</au><au>Zschocke, Johannes</au><au>Peters, Verena</au><au>Baumgartner, Matthias</au><au>Morava, Eva</au><au>Rahman, Shamima</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening</atitle><jtitle>JIMD Reports, Volume 19</jtitle><addtitle>JIMD Rep</addtitle><date>2015-01-01</date><risdate>2015</risdate><volume>19</volume><spage>67</spage><epage>73</epage><pages>67-73</pages><issn>2192-8304</issn><eissn>2192-8312</eissn><isbn>9783662461891</isbn><isbn>3662461897</isbn><eisbn>9783662461907</eisbn><eisbn>3662461900</eisbn><abstract>Purpose: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classic infantile-onset or late-onset Pompe disease, and those with a pseudodeficiency of acid alpha-glucosidase (GAA), identified through newborn screening (NBS) in Taiwan.
Methods: Infants identified through NBS with (1) classic infantile-onset Pompe disease (NBS-IOPD) (n = 7) defined as patients with evidence for hypertrophic cardiomyopathy by EKG, X-ray, and echocardiogram, (2) a late-onset phenotype (NBS-LOPD) (n = 13) defined as patients without evidence for cardiomyopathy, (3) a GAA pseudodeficiency (n = 58), and (4) one patient with LOPD diagnosed in infancy due to family history were consented to the study. Four infants diagnosed after the onset of clinical symptoms (CLIN-IOPD) were included for comparison. Glc4 concentrations in dried urine samples on filter paper were determined using tandem mass spectrometry.
Results: Baseline Glc4 concentrations were at or above the 90th centile of the age-matched reference range for the NBS-IOPD cohort. The median Glc4 level for this group was lower than that of the CLIN-IOPD group, although not at the level of significance (p = 0.07), but was significantly higher than that of the NBS-LOPD group (p < 0.05). Baseline Glc4 was not elevated for the NBS-LOPD and GAA pseudodeficiency cohorts and remained low for late-onset patients that did not require treatment before the age of three years.
Conclusion: Baseline urinary Glc4 is elevated in neonates with infantile-onset Pompe disease identified through NBS.</abstract><cop>Berlin, Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>25681082</pmid><doi>10.1007/8904_2014_366</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biomarker Glucose tetrasaccharide Newborn screening Pompe disease Tandem mass spectrometry |
| title | Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening |
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