{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T05:23:21Z","timestamp":1755926601363,"version":"3.37.3"},"reference-count":9,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T00:00:00Z","timestamp":1634083200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Fumaric aciduria resulting from fumarate hydratase deficiency is a rare inherited disorder of the Krebs tricarboxylic acid cycle that is characterized by neurologic manifestations, a spectrum of brain abnormalities, and the excretion of fumaric acid in urine. We describe a 3 year old Sri Lankan boy who was referred at age 10 months with poor weight gain and hypotonia for further laboratory investigations. In addition to global developmental delay, there were noticeable dysmorphic features with a prominent forehead, low-set ears, micrognathia, and hypertelorism with persistent neutropenia. Urine organic acid assay revealed a massive elevation of fumaric acid on 2 occasions. Molecular analysis revealed a homozygous likely pathogenic missense variant, NM000143.3:c.1048C&amp;gt;T p. (Arg350Trp), in the FH gene, confirming the biochemical diagnosis. Our patient was the first patient in Sri Lanka molecularly diagnosed with fumaric aciduria. This case study highlights the importance of performing organic acid assays in children presenting with neurologic manifestations especially when these are suspected to have a metabolic basis.<\/jats:p>","DOI":"10.1093\/labmed\/lmab083","type":"journal-article","created":{"date-parts":[[2021,8,12]],"date-time":"2021-08-12T19:10:51Z","timestamp":1628795451000},"page":"e48-e50","source":"Crossref","is-referenced-by-count":1,"title":["Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child"],"prefix":"10.1093","volume":"53","author":[{"given":"Eresha","family":"Jasinge","sequence":"first","affiliation":[{"name":"Department of Chemical Pathology, Lady Ridgeway Hospital for Children , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihika","family":"Fernando","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, Lady Ridgeway Hospital for Children , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7963-234X","authenticated-orcid":false,"given":"Neluwa-Liyanage R","family":"Indika","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Medical Sciences, University of Sri Jayewardenepura , Nugegoda , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta","family":"Trunzo","sequence":"additional","affiliation":[{"name":"CENTOGENE AG , Rostock , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Schr\u00f6der","sequence":"additional","affiliation":[{"name":"CENTOGENE AG , Rostock , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dinesha Maduri","family":"Vidanapathirana","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medical Sciences, University of Sri Jayewardenepura , Nugegoda , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia M","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Texas Southwestern Medical Center and Children\u2019s Medical Center , Dallas, Texas , US"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subashini","family":"Jayasena","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, Lady Ridgeway Hospital for Children , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anusha Varuni","family":"Gunarathne","sequence":"additional","affiliation":[{"name":"Department of Chemical Pathology, Lady Ridgeway Hospital for Children , Colombo , Sri Lanka"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pyara","family":"Ratnayake","sequence":"additional","affiliation":[{"name":"Neurology Unit, Lady Ridgeway Hospital for Children , Colombo , Sri 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