Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study
Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl‐CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy,...
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| creator | Märtner, E. M. Charlotte Maier, Esther M. Mengler, Katharina Thimm, Eva Schiergens, Katharina A. Marquardt, Thorsten Santer, René Weinhold, Natalie Marquardt, Iris Das, Anibh M. Freisinger, Peter Grünert, Sarah C. Vossbeck, Judith Steinfeld, Robert Baumgartner, Matthias R. Beblo, Skadi Dieckmann, Andrea Näke, Andrea Lindner, Martin Heringer‐Seifert, Jana Lenz, Dominic Hoffmann, Georg F. Mühlhausen, Chris Ensenauer, Regina Garbade, Sven F. Kölker, Stefan Boy, Nikolas |
| description | Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl‐CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy, particular low lysine diet, is safe or negatively affects anthropometric long‐term outcome. This national prospective, observational, multi‐centre study included 79 patients identified by NBS and investigated effects of interventional and non‐interventional parameters on body weight, body length, body mass index (BMI) and head circumference as well as neurological parameters. Adherence to recommended maintenance and emergency treatment (ET) had a positive impact on neurologic outcome and allowed normal anthropometric development until adulthood. In contrast, non‐adherence to ET, resulting in increased risk of dystonia, had a negative impact on body weight (mean SDS −1.07; P = .023) and body length (mean SDS −1.34; P = −.016). Consistently, longitudinal analysis showed a negative influence of severe dystonia on weight and length development over time (P |
| doi_str_mv | 10.1002/jimd.12335 |
| format | Article |
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M. Charlotte ; Maier, Esther M. ; Mengler, Katharina ; Thimm, Eva ; Schiergens, Katharina A. ; Marquardt, Thorsten ; Santer, René ; Weinhold, Natalie ; Marquardt, Iris ; Das, Anibh M. ; Freisinger, Peter ; Grünert, Sarah C. ; Vossbeck, Judith ; Steinfeld, Robert ; Baumgartner, Matthias R. ; Beblo, Skadi ; Dieckmann, Andrea ; Näke, Andrea ; Lindner, Martin ; Heringer‐Seifert, Jana ; Lenz, Dominic ; Hoffmann, Georg F. ; Mühlhausen, Chris ; Ensenauer, Regina ; Garbade, Sven F. ; Kölker, Stefan ; Boy, Nikolas</creator><creatorcontrib>Märtner, E. M. Charlotte ; Maier, Esther M. ; Mengler, Katharina ; Thimm, Eva ; Schiergens, Katharina A. ; Marquardt, Thorsten ; Santer, René ; Weinhold, Natalie ; Marquardt, Iris ; Das, Anibh M. ; Freisinger, Peter ; Grünert, Sarah C. ; Vossbeck, Judith ; Steinfeld, Robert ; Baumgartner, Matthias R. ; Beblo, Skadi ; Dieckmann, Andrea ; Näke, Andrea ; Lindner, Martin ; Heringer‐Seifert, Jana ; Lenz, Dominic ; Hoffmann, Georg F. ; Mühlhausen, Chris ; Ensenauer, Regina ; Garbade, Sven F. ; Kölker, Stefan ; Boy, Nikolas</creatorcontrib><description>Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl‐CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy, particular low lysine diet, is safe or negatively affects anthropometric long‐term outcome. This national prospective, observational, multi‐centre study included 79 patients identified by NBS and investigated effects of interventional and non‐interventional parameters on body weight, body length, body mass index (BMI) and head circumference as well as neurological parameters. Adherence to recommended maintenance and emergency treatment (ET) had a positive impact on neurologic outcome and allowed normal anthropometric development until adulthood. In contrast, non‐adherence to ET, resulting in increased risk of dystonia, had a negative impact on body weight (mean SDS −1.07; P = .023) and body length (mean SDS −1.34; P = −.016). Consistently, longitudinal analysis showed a negative influence of severe dystonia on weight and length development over time (P < .001). Macrocephaly was more often found in female (mean SDS 0.56) than in male patients (mean SDS −0.20; P = .049), and also in individuals with high excreter phenotype (mean SDS 0.44) compared to low excreter patients (mean SDS −0.68; P = .016). In GA1, recommended long‐term treatment is effective and allows for normal anthropometric long‐term development up to adolescence, with gender‐ and excreter type‐specific variations. Delayed ET and severe movement disorder result in poor anthropometric outcome.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1002/jimd.12335</identifier><identifier>PMID: 33274439</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Aciduria ; Adolescent ; Amino Acid Metabolism, Inborn Errors - diagnosis ; Amino Acid Metabolism, Inborn Errors - therapy ; anthropometrics ; Anthropometry ; biochemical subtype ; Body Height ; Body length ; Body Mass Index ; Body measurements ; Body Weight ; Brain Diseases, Metabolic - diagnosis ; Brain Diseases, Metabolic - therapy ; Child ; Child, Preschool ; development ; diet ; Dystonia ; Dystonia - pathology ; Emergency Treatment ; Female ; Germany ; glutaric acidemia type 1 ; glutaric aciduria type 1 ; Glutaryl-CoA Dehydrogenase - deficiency ; Humans ; Infant ; Infant, Newborn ; Lysine ; Macrocephaly ; Male ; Medical screening ; Megalencephaly - pathology ; Metabolic disorders ; Movement disorders ; Neonatal Screening ; newborn screening ; Nutrient deficiency ; Phenotypes ; Prospective Studies ; Sex Factors ; Young Adult</subject><ispartof>Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.629-638</ispartof><rights>2020 The Authors. 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Charlotte</creatorcontrib><creatorcontrib>Maier, Esther M.</creatorcontrib><creatorcontrib>Mengler, Katharina</creatorcontrib><creatorcontrib>Thimm, Eva</creatorcontrib><creatorcontrib>Schiergens, Katharina A.</creatorcontrib><creatorcontrib>Marquardt, Thorsten</creatorcontrib><creatorcontrib>Santer, René</creatorcontrib><creatorcontrib>Weinhold, Natalie</creatorcontrib><creatorcontrib>Marquardt, Iris</creatorcontrib><creatorcontrib>Das, Anibh M.</creatorcontrib><creatorcontrib>Freisinger, Peter</creatorcontrib><creatorcontrib>Grünert, Sarah C.</creatorcontrib><creatorcontrib>Vossbeck, Judith</creatorcontrib><creatorcontrib>Steinfeld, Robert</creatorcontrib><creatorcontrib>Baumgartner, Matthias R.</creatorcontrib><creatorcontrib>Beblo, Skadi</creatorcontrib><creatorcontrib>Dieckmann, Andrea</creatorcontrib><creatorcontrib>Näke, Andrea</creatorcontrib><creatorcontrib>Lindner, Martin</creatorcontrib><creatorcontrib>Heringer‐Seifert, Jana</creatorcontrib><creatorcontrib>Lenz, Dominic</creatorcontrib><creatorcontrib>Hoffmann, Georg F.</creatorcontrib><creatorcontrib>Mühlhausen, Chris</creatorcontrib><creatorcontrib>Ensenauer, Regina</creatorcontrib><creatorcontrib>Garbade, Sven F.</creatorcontrib><creatorcontrib>Kölker, Stefan</creatorcontrib><creatorcontrib>Boy, Nikolas</creatorcontrib><title>Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Glutaric aciduria type 1 (GA1) is a rare neurometabolic disorder, caused by inherited deficiency of glutaryl‐CoA dehydrogenase, mostly affecting the brain. Early identification by newborn screening (NBS) significantly improves neurologic outcome. It has remained unclear whether recommended therapy, particular low lysine diet, is safe or negatively affects anthropometric long‐term outcome. This national prospective, observational, multi‐centre study included 79 patients identified by NBS and investigated effects of interventional and non‐interventional parameters on body weight, body length, body mass index (BMI) and head circumference as well as neurological parameters. Adherence to recommended maintenance and emergency treatment (ET) had a positive impact on neurologic outcome and allowed normal anthropometric development until adulthood. In contrast, non‐adherence to ET, resulting in increased risk of dystonia, had a negative impact on body weight (mean SDS −1.07; P = .023) and body length (mean SDS −1.34; P = −.016). Consistently, longitudinal analysis showed a negative influence of severe dystonia on weight and length development over time (P < .001). Macrocephaly was more often found in female (mean SDS 0.56) than in male patients (mean SDS −0.20; P = .049), and also in individuals with high excreter phenotype (mean SDS 0.44) compared to low excreter patients (mean SDS −0.68; P = .016). In GA1, recommended long‐term treatment is effective and allows for normal anthropometric long‐term development up to adolescence, with gender‐ and excreter type‐specific variations. Delayed ET and severe movement disorder result in poor anthropometric outcome.</description><subject>Aciduria</subject><subject>Adolescent</subject><subject>Amino Acid Metabolism, Inborn Errors - diagnosis</subject><subject>Amino Acid Metabolism, Inborn Errors - therapy</subject><subject>anthropometrics</subject><subject>Anthropometry</subject><subject>biochemical subtype</subject><subject>Body Height</subject><subject>Body length</subject><subject>Body Mass Index</subject><subject>Body measurements</subject><subject>Body Weight</subject><subject>Brain Diseases, Metabolic - diagnosis</subject><subject>Brain Diseases, Metabolic - therapy</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>development</subject><subject>diet</subject><subject>Dystonia</subject><subject>Dystonia - pathology</subject><subject>Emergency Treatment</subject><subject>Female</subject><subject>Germany</subject><subject>glutaric acidemia type 1</subject><subject>glutaric aciduria type 1</subject><subject>Glutaryl-CoA Dehydrogenase - deficiency</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Lysine</subject><subject>Macrocephaly</subject><subject>Male</subject><subject>Medical screening</subject><subject>Megalencephaly - pathology</subject><subject>Metabolic disorders</subject><subject>Movement disorders</subject><subject>Neonatal Screening</subject><subject>newborn screening</subject><subject>Nutrient deficiency</subject><subject>Phenotypes</subject><subject>Prospective Studies</subject><subject>Sex Factors</subject><subject>Young Adult</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><sourceid>EIF</sourceid><recordid>eNp9kTuOFDEQhi0EYoeFhAMgSyQIaRY_u9tkq-U1aBHJ5i23Xb145LYb2z1oMo7ASTgUJ8HDDAQbEFVQX31VpR-hp5RcUELYq62b7AVlnMt7aEVly9esaeR9tCJU0HWnpDxDj3LeEkJUJ-VDdMY5a4XgaoV-bqZZm4LjiF0okHYQiotBe6yDxSGGX99_3GnsdHJ68JBxDJUqX1Kc4wQlOYN9DLd1ovITtrADH-epDlY3vvVL0QdGG2eXqsBlPwOmr_ElDvrknlPMM5jidoCnxRdXZaYKEuBcFrt_jB6M2md4cqrn6Obd25urD-vrz-83V5fXa8MVl2tLDGu1VUqPRAgNlnSm7Zgg4zAYoZpWtlQNohMdazpo7ahA22bQHaN0sIyfoxdHbb3n6wK59JPLBrzXAeKSeyaatqFCNryiz--g27ik-kulZN2oSEMOwpdHytQHc4Kxn5ObdNr3lPSHEPtDiP2fECv87KRchgnsP_RvahWgR-Cb87D_j6r_uPn05ij9DSCcrpA</recordid><startdate>202105</startdate><enddate>202105</enddate><creator>Märtner, E. 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Charlotte ; Maier, Esther M. ; Mengler, Katharina ; Thimm, Eva ; Schiergens, Katharina A. ; Marquardt, Thorsten ; Santer, René ; Weinhold, Natalie ; Marquardt, Iris ; Das, Anibh M. ; Freisinger, Peter ; Grünert, Sarah C. ; Vossbeck, Judith ; Steinfeld, Robert ; Baumgartner, Matthias R. ; Beblo, Skadi ; Dieckmann, Andrea ; Näke, Andrea ; Lindner, Martin ; Heringer‐Seifert, Jana ; Lenz, Dominic ; Hoffmann, Georg F. ; Mühlhausen, Chris ; Ensenauer, Regina ; Garbade, Sven F. ; Kölker, Stefan ; Boy, Nikolas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3935-d0c27ad99af044aed08c78240fbbc49675719b4848268e7df9ead6ba8211bd23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Aciduria</topic><topic>Adolescent</topic><topic>Amino Acid Metabolism, Inborn Errors - diagnosis</topic><topic>Amino Acid Metabolism, Inborn Errors - therapy</topic><topic>anthropometrics</topic><topic>Anthropometry</topic><topic>biochemical subtype</topic><topic>Body Height</topic><topic>Body length</topic><topic>Body Mass Index</topic><topic>Body measurements</topic><topic>Body Weight</topic><topic>Brain Diseases, Metabolic - diagnosis</topic><topic>Brain Diseases, Metabolic - therapy</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>development</topic><topic>diet</topic><topic>Dystonia</topic><topic>Dystonia - pathology</topic><topic>Emergency Treatment</topic><topic>Female</topic><topic>Germany</topic><topic>glutaric acidemia type 1</topic><topic>glutaric aciduria type 1</topic><topic>Glutaryl-CoA Dehydrogenase - deficiency</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Lysine</topic><topic>Macrocephaly</topic><topic>Male</topic><topic>Medical screening</topic><topic>Megalencephaly - pathology</topic><topic>Metabolic disorders</topic><topic>Movement disorders</topic><topic>Neonatal Screening</topic><topic>newborn screening</topic><topic>Nutrient deficiency</topic><topic>Phenotypes</topic><topic>Prospective Studies</topic><topic>Sex Factors</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Märtner, E. 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Consistently, longitudinal analysis showed a negative influence of severe dystonia on weight and length development over time (P < .001). Macrocephaly was more often found in female (mean SDS 0.56) than in male patients (mean SDS −0.20; P = .049), and also in individuals with high excreter phenotype (mean SDS 0.44) compared to low excreter patients (mean SDS −0.68; P = .016). In GA1, recommended long‐term treatment is effective and allows for normal anthropometric long‐term development up to adolescence, with gender‐ and excreter type‐specific variations. Delayed ET and severe movement disorder result in poor anthropometric outcome.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>33274439</pmid><doi>10.1002/jimd.12335</doi><tpages>10</tpages><orcidid>https://orcid.org/0000-0001-7665-6602</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.629-638 |
| issn | 0141-8955 1573-2665 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2467614563 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Aciduria Adolescent Amino Acid Metabolism, Inborn Errors - diagnosis Amino Acid Metabolism, Inborn Errors - therapy anthropometrics Anthropometry biochemical subtype Body Height Body length Body Mass Index Body measurements Body Weight Brain Diseases, Metabolic - diagnosis Brain Diseases, Metabolic - therapy Child Child, Preschool development diet Dystonia Dystonia - pathology Emergency Treatment Female Germany glutaric acidemia type 1 glutaric aciduria type 1 Glutaryl-CoA Dehydrogenase - deficiency Humans Infant Infant, Newborn Lysine Macrocephaly Male Medical screening Megalencephaly - pathology Metabolic disorders Movement disorders Neonatal Screening newborn screening Nutrient deficiency Phenotypes Prospective Studies Sex Factors Young Adult |
| title | Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-20T15%3A15%3A02IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Impact%20of%20interventional%20and%20non%E2%80%90interventional%20variables%20on%20anthropometric%20long%E2%80%90term%20development%20in%20glutaric%20aciduria%20type%201:%20A%20national%20prospective%20multi%E2%80%90centre%20study&rft.jtitle=Journal%20of%20inherited%20metabolic%20disease&rft.au=M%C3%A4rtner,%20E.%20M.%20Charlotte&rft.date=2021-05&rft.volume=44&rft.issue=3&rft.spage=629&rft.epage=638&rft.pages=629-638&rft.issn=0141-8955&rft.eissn=1573-2665&rft_id=info:doi/10.1002/jimd.12335&rft_dat=%3Cproquest_cross%3E2524090602%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2524090602&rft_id=info:pmid/33274439&rfr_iscdi=true |