Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes

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dc.authorid0000-0003-0015-9807
dc.authorid0000-0002-9175-1998
dc.authorid0000-0002-2564-7420
dc.authorid0000-0002-5597-9290
dc.authorid0000-0002-1358-8240
dc.authorid0000-0001-5851-1012
dc.authorid0000-0002-6308-6804
dc.authorid0000-0002-5762-6149
dc.authorid0000-0002-1460-0053
dc.authorid0000-0002-4109-9401
dc.authorid0000-0002-1380-5241
dc.authorid0000-0001-9574-7841
dc.contributor.authorYoldas Celik, Merve
dc.contributor.authorCanda, Ebru
dc.contributor.authorYazici, Havva
dc.contributor.authorErdem, Fehime
dc.contributor.authorYuksel Yanbolu, Ayse
dc.contributor.authorAtik Altinok, Yasemin
dc.contributor.authorCoker, Mahmut
dc.contributor.authorEraslan, Cenk
dc.contributor.authorAykut, Ayca
dc.contributor.authorDurmaz, Asude
dc.contributor.authorHabif, Sara
dc.contributor.authorKalkan Ucar, Sema
dc.date.accessioned2025-03-11T07:11:24Z
dc.date.available2025-03-11T07:11:24Z
dc.date.issued2024
dc.departmentEge Üniversitesi, Tıp Fakültesi, Dahili Bilimler Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractGlutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The demographic, clinical, and laboratory findings of GA1 patients were reviewed retrospectively. This study presents the clinical, biochemical, genetic, and neuroimaging findings of 15 patients (six males, nine females) from 13 families diagnosed with GA1. The median age at diagnosis was 20 months, and the median follow-up period was 72 months. Developmental delay was observed in 66.7% of patients, with 46.7% experiencing seizures and 33.3% suffering from encephalopathic crises. Biochemical analyses showed elevated levels of glutaric acid and 3-hydroxyglutaric acid in 93.3% and 80% of patients, respectively. Genetic testing identified the p.Arg402Trp variant in 53.3% of patients. Neurological evaluations revealed delays in motor and speech development, with 66.7% of patients never achieving the ability to walk. Cranial MRI indicated white matter changes in all patients and basal ganglia involvement in 93.3%. Despite significant biochemical improvements with treatment in glutaric acid levels and head circumference over time, neurological deficits remain unchanged. Growth parameters such as body weight showed significant decreases due to poor neurological outcomes.Conclusion: The study underscores the importance of early diagnosis and intervention to mitigate severe neurological outcomes. Our findings highlight the need for incorporating GA1 into newborn screening programs to ensure timely diagnosis and treatment. What is Known:center dot Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. If untreated, it often leads to severe neurological complications. Early diagnosis and treatment are crucial for improving clinical outcomes in GA1 patients.What is New:center dot This study presents comprehensive data from a cohort of 15 Glutaric aciduria type 1 (GA1) patients, detailing their biochemical, genetic, clinical, and neuroimaging findings. Drawing attention to the severe neurological findings in late-diagnosed patients underscores the critical importance of including GA1 in newborn screening programs to enhance early diagnosis and prevent severe outcomes.
dc.identifier.citationYoldas Celik, M., Canda, E., Yazici, H., Erdem, F., Yuksel Yanbolu, A., Atik Altınok, Y., Eraslan, C., Aykut, A., Durmaz, A., Habif, S., Kalkan Ucar, S., & Coker, M. (2024). Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes. European Journal of Pediatrics, 184(1), 72.
dc.identifier.doi10.1007/s00431-024-05907-7
dc.identifier.endpage11
dc.identifier.issn0340-6199
dc.identifier.issue1
dc.identifier.pmid39658645
dc.identifier.scopus2-s2.0-85211502746
dc.identifier.scopusqualityQ1
dc.identifier.startpage1
dc.identifier.urihttps://doi.org/10.1007/s00431-024-05907-7
dc.identifier.urihttps://hdl.handle.net/11454/116587
dc.identifier.volume184
dc.identifier.wosWOS:001379523600003
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorYoldas Celik, Merve Yoldas
dc.institutionauthorCanda, Ebru
dc.institutionauthorYazici, Havva
dc.institutionauthorErdem, Fehime
dc.institutionauthorYuksel Yanbolu, Ayse
dc.institutionauthorAtik Altinok, Yasemin
dc.institutionauthorCoker, Mahmut
dc.institutionauthorEraslan, Cenk
dc.institutionauthorAykut, Ayca
dc.institutionauthorDurmaz, Asude
dc.institutionauthorHabif, Sara
dc.institutionauthorKalkan Ucar, Sema
dc.institutionauthorid0000-0003-0015-9807
dc.institutionauthorid0000-0002-9175-1998
dc.institutionauthorid0000-0002-2564-7420
dc.institutionauthorid0000-0002-5597-9290
dc.institutionauthorid0000-0002-1358-8240
dc.institutionauthorid0000-0001-5851-1012
dc.institutionauthorid0000-0002-6308-6804
dc.institutionauthorid0000-0002-5762-6149
dc.institutionauthorid0000-0002-1460-0053
dc.institutionauthorid0000-0002-4109-9401
dc.institutionauthorid0000-0002-1380-5241
dc.institutionauthorid0000-0001-9574-7841
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofEuropean Journal of Pediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectCranial MRI findings
dc.subjectGCDH
dc.subjectGlutaric aciduria type 1
dc.subjectGlutaryl-CoA dehydrogenase deficiency
dc.subjectNeurological outcomes
dc.subjectNewborn screening
dc.titleGlutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes
dc.typeArticle

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