{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:53:23Z","timestamp":1791932003987,"version":"4.3.4"},"reference-count":61,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T00:00:00Z","timestamp":1639526400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003995","name":"Natural Science Foundation of Anhui Province","doi-asserted-by":"publisher","award":["2008085QH400"],"award-info":[{"award-number":["2008085QH400"]}],"id":[{"id":"10.13039\/501100003995","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Nutr."],"abstract":"<jats:p>Glutaric acidemia (GA) are heterogeneous, genetic diseases that present with specific catabolic deficiencies of amino acid or fatty acid metabolism. The disorders can be divided into type I and type II by the occurrence of different types of recessive mutations of autosomal, metabolically important genes. Patients of glutaric acidemia type I (GA-I) if not diagnosed very early in infanthood, experience irreversible neurological injury during an encephalopathic crisis in childhood. If diagnosed early the disorder can be treated successfully with a combined metabolic treatment course that includes early catabolic emergency treatment and long-term maintenance nutrition therapy. Glutaric acidemia type II (GA- II) patients can present clinically with hepatomegaly, non-ketotic hypoglycemia, metabolic acidosis, hypotonia, and in neonatal onset cardiomyopathy. Furthermore, it features adult-onset muscle-related symptoms, including weakness, fatigue, and myalgia. An early diagnosis is crucial, as both types can be managed by simple nutraceutical supplementation. This review discusses the pathogenesis of GA and its nutritional management practices, and aims to promote understanding and management of GA. We will provide a detailed summary of current clinical management strategies of the glutaric academia disorders and highlight issues of nutrition therapy principles in emergency settings and outline some specific cases.<\/jats:p>","DOI":"10.3389\/fnut.2021.704984","type":"journal-article","created":{"date-parts":[[2021,12,15]],"date-time":"2021-12-15T07:29:31Z","timestamp":1639553371000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":28,"title":["Glutaric Acidemia, Pathogenesis and Nutritional Therapy"],"prefix":"10.3389","volume":"8","author":[{"given":"Qian","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunlan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yazi","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongkang","family":"Men","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinrich","family":"K\u00f6rner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,12,15]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1016\/0006-2944(75)90091-5","article-title":"Glutaric aciduria; a \u201cnew\u201d disorder of amino acid metabolism","volume":"12","author":"Goodman","year":"1975","journal-title":"Biochem Med."},{"key":"B2","doi-asserted-by":"publisher","first-page":"840","DOI":"10.1203\/01.pdr.0000219387.79887.86","article-title":"Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency","volume":"59","author":"K\u00f6lker","year":"2006","journal-title":"Pediatr Res."},{"key":"B3","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1002\/ajmg.c.20007","article-title":"Type I glutaric aciduria, part 1: natural history of 77 patients","author":"Strauss","year":"2003","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B4","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/0009-8981(76)90060-7","article-title":"Glutaric aciduria type II: report on a previously undescribed metabolic disorder","volume":"66","author":"Przyrembel","year":"1976","journal-title":"Clin Chim Acta."},{"key":"B5","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/BF03047371","article-title":"Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency)","volume":"1","author":"Goodman","year":"1984","journal-title":"J Inherit Metab Dis."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/8904_2017_38","article-title":"Successful Pregnancy in a Young Woman with Multiple Acyl-CoA Dehydrogenase Deficiency","volume":"39","author":"Creanza","year":"2018","journal-title":"JIMD Rep."},{"key":"B7","doi-asserted-by":"publisher","first-page":"11488","DOI":"10.1021\/bi000700g","article-title":"Proton abstraction reaction, steady-state kinetics, and oxidation-reduction potential of human glutaryl-CoA dehydrogenase","volume":"39","author":"Dwyer","year":"2000","journal-title":"Biochemistry."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1493","DOI":"10.1093\/hmg\/4.9.1493","article-title":"Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli","volume":"4","author":"Goodman","year":"1995","journal-title":"Hum Mol Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1006\/geno.1994.1264","article-title":"Goodman SI. 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