Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
Maple syrup urine disease (MSUD), a life-threatening metabolic disorder, is included in newborn screening (NBS) programs worldwide. The study aims to evaluate the impact of NBS on the long-term outcome of MSUD patients. We performed a prospective, national, multicenter, observational study. In the s...
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| creator | Mengler, Katharina Garbade, Sven F Gleich, Florian Thimm, Eva May, Petra Lindner, Martin Lüsebrink, Natalia Marquardt, Thorsten Hübner, Vanessa Krämer, Johannes Neugebauer, Julia Beblo, Skadi Gillitzer, Claus Grünert, Sarah C Hennermann, Julia B Kamrath, Clemens Marquardt, Iris Näke, Andrea Murko, Simona Schmidt, Sebastian Schnabel, Elena Lommer-Steinhoff, Svenja Hoffmann, Georg F Beime, Jan Santer, René Kölker, Stefan Mütze, Ulrike |
| description | Maple syrup urine disease (MSUD), a life-threatening metabolic disorder, is included in newborn screening (NBS) programs worldwide. The study aims to evaluate the impact of NBS on the long-term outcome of MSUD patients.
We performed a prospective, national, multicenter, observational study.
In the studied NBS cohort (N = 33; 22 classic MSUD [cMSUD], 11 variant MSUD [vMSUD]; median age at last visit 10.4 years), 32 (97%) patients survived, 58% of them had normal cognitive functions (median IQ 87). Initial peak leucine increased linearly with age in cMSUD (median: 1712 µmol/L), but not in vMSUD. Global IQ correlated inversely with the initial peak leucine concentration (P = .04; β = -0.0081) and the frequency of decompensations (P = .02; β = -9.133). A cluster analysis identified 2 subgroups differing in their long-term metabolic control (median leucine concentration: 162 vs 278 µmol/L; P < .001). In cMSUD, lower leucine concentrations were associated with a higher IQ (95.5 vs 80; P = .008). Liver transplantation (median age 5.8 years) was not associated with better cognitive outcome. NBS is highly sensitive for cMSUD, but vMSUD might be missed (N = 2 missed by NBS).
NBS and the early start of treatment improve survival and long-term outcome in individuals with cMSUD. Disease severity is an important modifier of outcome; however, the time to NBS report and the quality of long-term metabolic control had an independent impact on cognitive outcome, highlighting the importance of an early diagnosis and the quality of treatment. |
| doi_str_mv | 10.1542/peds.2023-064370 |
| format | Article |
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We performed a prospective, national, multicenter, observational study.
In the studied NBS cohort (N = 33; 22 classic MSUD [cMSUD], 11 variant MSUD [vMSUD]; median age at last visit 10.4 years), 32 (97%) patients survived, 58% of them had normal cognitive functions (median IQ 87). Initial peak leucine increased linearly with age in cMSUD (median: 1712 µmol/L), but not in vMSUD. Global IQ correlated inversely with the initial peak leucine concentration (P = .04; β = -0.0081) and the frequency of decompensations (P = .02; β = -9.133). A cluster analysis identified 2 subgroups differing in their long-term metabolic control (median leucine concentration: 162 vs 278 µmol/L; P < .001). In cMSUD, lower leucine concentrations were associated with a higher IQ (95.5 vs 80; P = .008). Liver transplantation (median age 5.8 years) was not associated with better cognitive outcome. NBS is highly sensitive for cMSUD, but vMSUD might be missed (N = 2 missed by NBS).
NBS and the early start of treatment improve survival and long-term outcome in individuals with cMSUD. Disease severity is an important modifier of outcome; however, the time to NBS report and the quality of long-term metabolic control had an independent impact on cognitive outcome, highlighting the importance of an early diagnosis and the quality of treatment.</description><identifier>ISSN: 0031-4005</identifier><identifier>ISSN: 1098-4275</identifier><identifier>EISSN: 1098-4275</identifier><identifier>DOI: 10.1542/peds.2023-064370</identifier><identifier>PMID: 38957900</identifier><language>eng</language><publisher>United States: American Academy of Pediatrics</publisher><subject>Adolescent ; Age ; Child ; Child, Preschool ; Cognitive ability ; Female ; Humans ; Infant ; Infant, Newborn ; Intelligence ; Leucine ; Leucine - blood ; Liver transplantation ; Male ; Maple syrup urine disease ; Maple Syrup Urine Disease - diagnosis ; Maple Syrup Urine Disease - therapy ; Medical screening ; Metabolic disorders ; Metabolism ; Neonatal Screening - methods ; Prospective Studies ; Treatment Outcome</subject><ispartof>Pediatrics (Evanston), 2024-08, Vol.154 (2), p.1</ispartof><rights>Copyright © 2024 by the American Academy of Pediatrics.</rights><rights>Copyright American Academy of Pediatrics Aug 2024</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c210t-df559ad0b577ca226233e999dcd7cddc812167abe16bc29ad0cef337da24727f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27929,27930</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38957900$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mengler, Katharina</creatorcontrib><creatorcontrib>Garbade, Sven F</creatorcontrib><creatorcontrib>Gleich, Florian</creatorcontrib><creatorcontrib>Thimm, Eva</creatorcontrib><creatorcontrib>May, Petra</creatorcontrib><creatorcontrib>Lindner, Martin</creatorcontrib><creatorcontrib>Lüsebrink, Natalia</creatorcontrib><creatorcontrib>Marquardt, Thorsten</creatorcontrib><creatorcontrib>Hübner, Vanessa</creatorcontrib><creatorcontrib>Krämer, Johannes</creatorcontrib><creatorcontrib>Neugebauer, Julia</creatorcontrib><creatorcontrib>Beblo, Skadi</creatorcontrib><creatorcontrib>Gillitzer, Claus</creatorcontrib><creatorcontrib>Grünert, Sarah C</creatorcontrib><creatorcontrib>Hennermann, Julia B</creatorcontrib><creatorcontrib>Kamrath, Clemens</creatorcontrib><creatorcontrib>Marquardt, Iris</creatorcontrib><creatorcontrib>Näke, Andrea</creatorcontrib><creatorcontrib>Murko, Simona</creatorcontrib><creatorcontrib>Schmidt, Sebastian</creatorcontrib><creatorcontrib>Schnabel, Elena</creatorcontrib><creatorcontrib>Lommer-Steinhoff, Svenja</creatorcontrib><creatorcontrib>Hoffmann, Georg F</creatorcontrib><creatorcontrib>Beime, Jan</creatorcontrib><creatorcontrib>Santer, René</creatorcontrib><creatorcontrib>Kölker, Stefan</creatorcontrib><creatorcontrib>Mütze, Ulrike</creatorcontrib><title>Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening</title><title>Pediatrics (Evanston)</title><addtitle>Pediatrics</addtitle><description>Maple syrup urine disease (MSUD), a life-threatening metabolic disorder, is included in newborn screening (NBS) programs worldwide. The study aims to evaluate the impact of NBS on the long-term outcome of MSUD patients.
We performed a prospective, national, multicenter, observational study.
In the studied NBS cohort (N = 33; 22 classic MSUD [cMSUD], 11 variant MSUD [vMSUD]; median age at last visit 10.4 years), 32 (97%) patients survived, 58% of them had normal cognitive functions (median IQ 87). Initial peak leucine increased linearly with age in cMSUD (median: 1712 µmol/L), but not in vMSUD. Global IQ correlated inversely with the initial peak leucine concentration (P = .04; β = -0.0081) and the frequency of decompensations (P = .02; β = -9.133). A cluster analysis identified 2 subgroups differing in their long-term metabolic control (median leucine concentration: 162 vs 278 µmol/L; P < .001). In cMSUD, lower leucine concentrations were associated with a higher IQ (95.5 vs 80; P = .008). Liver transplantation (median age 5.8 years) was not associated with better cognitive outcome. NBS is highly sensitive for cMSUD, but vMSUD might be missed (N = 2 missed by NBS).
NBS and the early start of treatment improve survival and long-term outcome in individuals with cMSUD. Disease severity is an important modifier of outcome; however, the time to NBS report and the quality of long-term metabolic control had an independent impact on cognitive outcome, highlighting the importance of an early diagnosis and the quality of treatment.</description><subject>Adolescent</subject><subject>Age</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Cognitive ability</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Intelligence</subject><subject>Leucine</subject><subject>Leucine - blood</subject><subject>Liver transplantation</subject><subject>Male</subject><subject>Maple syrup urine disease</subject><subject>Maple Syrup Urine Disease - diagnosis</subject><subject>Maple Syrup Urine Disease - therapy</subject><subject>Medical screening</subject><subject>Metabolic disorders</subject><subject>Metabolism</subject><subject>Neonatal Screening - methods</subject><subject>Prospective Studies</subject><subject>Treatment Outcome</subject><issn>0031-4005</issn><issn>1098-4275</issn><issn>1098-4275</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkDtPwzAUhS0EoqWwMyFLLCyBazuO6xGVp1Taoe0cOfYNStU8sBOh_nsStTCw3LN85-jqI-SawT2TMX9o0IV7DlxEkMRCwQkZM9DTKOZKnpIxgGBRDCBH5CKELQDEUvFzMhJTLZUGGJPF2qNpS6xauuxaW5cYaF57-mGaHdLV3ncN3fiiQvpUBDShT2zRtuhotqcL_M5qX9GV9YhVUX1ekrPc7AJeHXNCNi_P69lbNF--vs8e55HlDNrI5VJq4yCTSlnDecKFQK21s05Z5-yUcZYokyFLMssH0mIuhHKGx4qrXEzI3WG38fVXh6FNyyJY3O1MhXUXUgFKCqVjFffo7T90W3e-6r_rKc1BSNafCYEDZX0dgsc8bXxRGr9PGaSD63RwnQ6u04PrvnJzHO6yEt1f4Veu-AHSPXoS</recordid><startdate>20240801</startdate><enddate>20240801</enddate><creator>Mengler, Katharina</creator><creator>Garbade, Sven F</creator><creator>Gleich, Florian</creator><creator>Thimm, Eva</creator><creator>May, Petra</creator><creator>Lindner, Martin</creator><creator>Lüsebrink, Natalia</creator><creator>Marquardt, Thorsten</creator><creator>Hübner, Vanessa</creator><creator>Krämer, Johannes</creator><creator>Neugebauer, Julia</creator><creator>Beblo, Skadi</creator><creator>Gillitzer, Claus</creator><creator>Grünert, Sarah C</creator><creator>Hennermann, Julia B</creator><creator>Kamrath, Clemens</creator><creator>Marquardt, Iris</creator><creator>Näke, Andrea</creator><creator>Murko, Simona</creator><creator>Schmidt, Sebastian</creator><creator>Schnabel, Elena</creator><creator>Lommer-Steinhoff, Svenja</creator><creator>Hoffmann, Georg F</creator><creator>Beime, Jan</creator><creator>Santer, René</creator><creator>Kölker, Stefan</creator><creator>Mütze, Ulrike</creator><general>American Academy of Pediatrics</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>7TS</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>U9A</scope><scope>7X8</scope></search><sort><creationdate>20240801</creationdate><title>Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening</title><author>Mengler, Katharina ; 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The study aims to evaluate the impact of NBS on the long-term outcome of MSUD patients.
We performed a prospective, national, multicenter, observational study.
In the studied NBS cohort (N = 33; 22 classic MSUD [cMSUD], 11 variant MSUD [vMSUD]; median age at last visit 10.4 years), 32 (97%) patients survived, 58% of them had normal cognitive functions (median IQ 87). Initial peak leucine increased linearly with age in cMSUD (median: 1712 µmol/L), but not in vMSUD. Global IQ correlated inversely with the initial peak leucine concentration (P = .04; β = -0.0081) and the frequency of decompensations (P = .02; β = -9.133). A cluster analysis identified 2 subgroups differing in their long-term metabolic control (median leucine concentration: 162 vs 278 µmol/L; P < .001). In cMSUD, lower leucine concentrations were associated with a higher IQ (95.5 vs 80; P = .008). Liver transplantation (median age 5.8 years) was not associated with better cognitive outcome. NBS is highly sensitive for cMSUD, but vMSUD might be missed (N = 2 missed by NBS).
NBS and the early start of treatment improve survival and long-term outcome in individuals with cMSUD. Disease severity is an important modifier of outcome; however, the time to NBS report and the quality of long-term metabolic control had an independent impact on cognitive outcome, highlighting the importance of an early diagnosis and the quality of treatment.</abstract><cop>United States</cop><pub>American Academy of Pediatrics</pub><pmid>38957900</pmid><doi>10.1542/peds.2023-064370</doi></addata></record> |
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| subjects | Adolescent Age Child Child, Preschool Cognitive ability Female Humans Infant Infant, Newborn Intelligence Leucine Leucine - blood Liver transplantation Male Maple syrup urine disease Maple Syrup Urine Disease - diagnosis Maple Syrup Urine Disease - therapy Medical screening Metabolic disorders Metabolism Neonatal Screening - methods Prospective Studies Treatment Outcome |
| title | Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening |
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