Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child
Abstract 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 La...
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| Veröffentlicht in: | Laboratory medicine 2022-05, Vol.53 (3), p.e48-e50 |
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| creator | Jasinge, Eresha Fernando, Mihika Indika, Neluwa-Liyanage R Trunzo, Roberta Schröder, Sabine Vidanapathirana, Dinesha Maduri Jones, Patricia M Jayasena, Subashini Gunarathne, Anusha Varuni Ratnayake, Pyara |
| description | Abstract
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>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. |
| doi_str_mv | 10.1093/labmed/lmab083 |
| format | Article |
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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>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.</description><identifier>ISSN: 0007-5027</identifier><identifier>EISSN: 1943-7730</identifier><identifier>DOI: 10.1093/labmed/lmab083</identifier><identifier>PMID: 34643235</identifier><language>eng</language><publisher>US: Oxford University Press</publisher><subject>Acids ; Amino acids ; Case studies ; Child ; Child, Preschool ; Diagnostic Tests, Routine ; Fumarate Hydratase - deficiency ; Fumarate Hydratase - genetics ; Fumarate Hydratase - metabolism ; Fumaric acid ; Humans ; Infant ; Male ; Medical diagnosis ; Medical tests ; Metabolism, Inborn Errors ; Muscle Hypotonia - diagnosis ; Muscle Hypotonia - genetics ; Psychomotor Disorders ; Sri Lanka ; Urine</subject><ispartof>Laboratory medicine, 2022-05, Vol.53 (3), p.e48-e50</ispartof><rights>The Author(s) 2021. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com 2021</rights><rights>American Society for Clinical Pathology, 2021. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.</rights><rights>COPYRIGHT 2022 Oxford University Press</rights><rights>The Author(s) 2021. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c379t-fa4fab099f1b4763c252c1aaf9ebd74f98cf6155e6b041c671bd5e160289a76e3</cites><orcidid>0000-0001-7963-234X</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,1585,27926,27927</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34643235$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jasinge, Eresha</creatorcontrib><creatorcontrib>Fernando, Mihika</creatorcontrib><creatorcontrib>Indika, Neluwa-Liyanage R</creatorcontrib><creatorcontrib>Trunzo, Roberta</creatorcontrib><creatorcontrib>Schröder, Sabine</creatorcontrib><creatorcontrib>Vidanapathirana, Dinesha Maduri</creatorcontrib><creatorcontrib>Jones, Patricia M</creatorcontrib><creatorcontrib>Jayasena, Subashini</creatorcontrib><creatorcontrib>Gunarathne, Anusha Varuni</creatorcontrib><creatorcontrib>Ratnayake, Pyara</creatorcontrib><title>Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child</title><title>Laboratory medicine</title><addtitle>Lab Med</addtitle><description>Abstract
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>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.</description><subject>Acids</subject><subject>Amino acids</subject><subject>Case studies</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Diagnostic Tests, Routine</subject><subject>Fumarate Hydratase - deficiency</subject><subject>Fumarate Hydratase - genetics</subject><subject>Fumarate Hydratase - metabolism</subject><subject>Fumaric acid</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical diagnosis</subject><subject>Medical tests</subject><subject>Metabolism, Inborn Errors</subject><subject>Muscle Hypotonia - diagnosis</subject><subject>Muscle Hypotonia - genetics</subject><subject>Psychomotor Disorders</subject><subject>Sri Lanka</subject><subject>Urine</subject><issn>0007-5027</issn><issn>1943-7730</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkb1vFDEQxS0EIpdAS4ks0ZBiE3-s7TXd6SCAOCkFSUVhzXrtw2HXvti3xf33ONxFSCgScmF5_JunN_MQekPJBSWaX47QT264HCfoScefoQXVLW-U4uQ5WhBCVCMIUyfotJS7-my1ZC_RCW9lyxkXC_TjNofo8HXeQAwWL20Y8DLCuC-hfMDf3B5_DLCJqezq740rO-xTxlfzBPmIzzkADhED_p4DXkP8BRGvfoZxeIVeeBiLe328z9Dt1aeb1Zdmff3562q5bixXetd4aH11r7Wnfaskt0wwSwG8dv2gWq876yUVwsmetNRKRftBOCoJ6zQo6fgZen_Q3eZ0P1ePZgrFunGE6NJcDBMd7WidWFT03T_oXZpznbdSUgnWMS3IX2oDozMh-rTLYB9EzVKpjhKmVVupiyeoegY3BZui86HWn2qwOZWSnTfbHOoi94YS85CmOaRpjmnWhrdHt_Of-iP-GF8Fzg9Amrf_E_sNzu6nsw</recordid><startdate>20220501</startdate><enddate>20220501</enddate><creator>Jasinge, Eresha</creator><creator>Fernando, Mihika</creator><creator>Indika, Neluwa-Liyanage R</creator><creator>Trunzo, Roberta</creator><creator>Schröder, Sabine</creator><creator>Vidanapathirana, Dinesha Maduri</creator><creator>Jones, Patricia M</creator><creator>Jayasena, Subashini</creator><creator>Gunarathne, Anusha Varuni</creator><creator>Ratnayake, Pyara</creator><general>Oxford University Press</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>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8C1</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-7963-234X</orcidid></search><sort><creationdate>20220501</creationdate><title>Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child</title><author>Jasinge, Eresha ; Fernando, Mihika ; Indika, Neluwa-Liyanage R ; Trunzo, Roberta ; Schröder, Sabine ; Vidanapathirana, Dinesha Maduri ; Jones, Patricia M ; Jayasena, Subashini ; Gunarathne, Anusha Varuni ; Ratnayake, Pyara</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c379t-fa4fab099f1b4763c252c1aaf9ebd74f98cf6155e6b041c671bd5e160289a76e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Acids</topic><topic>Amino acids</topic><topic>Case studies</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Diagnostic Tests, Routine</topic><topic>Fumarate Hydratase - deficiency</topic><topic>Fumarate Hydratase - genetics</topic><topic>Fumarate Hydratase - metabolism</topic><topic>Fumaric acid</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical diagnosis</topic><topic>Medical tests</topic><topic>Metabolism, Inborn Errors</topic><topic>Muscle Hypotonia - diagnosis</topic><topic>Muscle Hypotonia - genetics</topic><topic>Psychomotor Disorders</topic><topic>Sri Lanka</topic><topic>Urine</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jasinge, Eresha</creatorcontrib><creatorcontrib>Fernando, Mihika</creatorcontrib><creatorcontrib>Indika, Neluwa-Liyanage R</creatorcontrib><creatorcontrib>Trunzo, Roberta</creatorcontrib><creatorcontrib>Schröder, Sabine</creatorcontrib><creatorcontrib>Vidanapathirana, Dinesha Maduri</creatorcontrib><creatorcontrib>Jones, Patricia M</creatorcontrib><creatorcontrib>Jayasena, Subashini</creatorcontrib><creatorcontrib>Gunarathne, Anusha Varuni</creatorcontrib><creatorcontrib>Ratnayake, Pyara</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Public Health Database</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>MEDLINE - Academic</collection><jtitle>Laboratory medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jasinge, Eresha</au><au>Fernando, Mihika</au><au>Indika, Neluwa-Liyanage R</au><au>Trunzo, Roberta</au><au>Schröder, Sabine</au><au>Vidanapathirana, Dinesha Maduri</au><au>Jones, Patricia M</au><au>Jayasena, Subashini</au><au>Gunarathne, Anusha Varuni</au><au>Ratnayake, Pyara</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child</atitle><jtitle>Laboratory medicine</jtitle><addtitle>Lab Med</addtitle><date>2022-05-01</date><risdate>2022</risdate><volume>53</volume><issue>3</issue><spage>e48</spage><epage>e50</epage><pages>e48-e50</pages><issn>0007-5027</issn><eissn>1943-7730</eissn><abstract>Abstract
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>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.</abstract><cop>US</cop><pub>Oxford University Press</pub><pmid>34643235</pmid><doi>10.1093/labmed/lmab083</doi><orcidid>https://orcid.org/0000-0001-7963-234X</orcidid></addata></record> |
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| subjects | Acids Amino acids Case studies Child Child, Preschool Diagnostic Tests, Routine Fumarate Hydratase - deficiency Fumarate Hydratase - genetics Fumarate Hydratase - metabolism Fumaric acid Humans Infant Male Medical diagnosis Medical tests Metabolism, Inborn Errors Muscle Hypotonia - diagnosis Muscle Hypotonia - genetics Psychomotor Disorders Sri Lanka Urine |
| title | Urine Organic Acid Analysis: Key Diagnostic Test for Fumaric Aciduria in a Sri Lankan Child |
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