{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T18:24:13Z","timestamp":1789496653008,"version":"build-2803163510"},"reference-count":44,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T00:00:00Z","timestamp":1739836800000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Glutaric aciduria Type 1 (GA\u20101) is an autosomal recessive inherited disorder caused by\n                      <jats:italic>GCDH<\/jats:italic>\n                      variations. GA\u20101 is a rare disease that typically manifests in infancy and early childhood, with adult\u2010onset cases being even rarer. Currently, data on the clinical and genetic characteristics of adult\u2010onset GA\u20101 remain limited.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We hereby reported two new cases of adult\u2010onset GA\u20101 and systematically summarized reported studies to investigate its genotypic and phenotypic features.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Patient 1 presented with seizures as the onset symptom. Patient 2 exhibited recurrent stroke\u2010like episodes. Brain magnetic resonance imaging showed subependymal lesions. Urine organic acid analyses were performed since both patients had hyperhomocysteinemia (HHcy) and found significantly elevated glutaric acid and 3\u2010hydroxyglutaric acid. Genetic analysis further identified biallelic missense variants in\n                      <jats:italic>GCDH<\/jats:italic>\n                      in both patients (Patient 1: c.383G&gt; A, c.937C&gt; T; Patient 2: c.533G&gt; A, c.1205G&gt; A). A literature review found seven cases and 12 variants in adult\u2010onset GA\u20101. Most of them showed nonspecific neurological manifestations. The most common symptoms were cognitive impairment and headache. Subependymal lesions have been reported in five of seven cases. One of them also had HHcy. All adult\u2010onset GA\u20101 cases were high excretors. All\n                      <jats:italic>GCDH<\/jats:italic>\n                      variants are located in nonactive binding regions.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study characterized the phenotype of adult\u2010onset GA\u20101 emphasizing subependymal lesions and the coexistence of HHcy. The latter might suggest the influence of environmental factors on the age of onset. No clear genotype\u2013phenotype correlation was found.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/brb3.70281","type":"journal-article","created":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T06:28:56Z","timestamp":1739860136000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic and Genotypic Characteristics of Adult\u2010Onset Glutaric Aciduria Type 1: Report of Two Cases and a Literature Review"],"prefix":"10.1002","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3056-1573","authenticated-orcid":false,"given":"Luhua","family":"Wei","sequence":"first","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieyu","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Peking University First Hospital  Beijing 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