Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency

To summarize the clinical and genetic characteristics of children with β-ketothiolase deficiency (BKTD). The clinical characteristics, biochemical, markers detected by tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS), as well as the variants in ACAT1 gene among 5 chi...

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Veröffentlicht in:	Zhonghua er ke za zhi 2024-01, Vol.62 (1), p.66-70
Hauptverfasser:	Zhang, J, Yu, C W, Wang, M, Wan, K X, Yang, J, Yuan, Z J, Liao, Z H, Wang, D J
Format:	Artikel
Sprache:	chi
Schlagworte:	Acidosis Carnitine Child Child, Preschool Female Humans Infant Male Retrospective Studies Tandem Mass Spectrometry
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creator	Zhang, J Yu, C W Wang, M Wan, K X Yang, J Yuan, Z J Liao, Z H Wang, D J
description	To summarize the clinical and genetic characteristics of children with β-ketothiolase deficiency (BKTD). The clinical characteristics, biochemical, markers detected by tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS), as well as the variants in ACAT1 gene among 5 children with BKTD in Children's Hospital of Chongqing Medical University between October 2018 and December 2022 were retrospectively analyzed. The onset age of the disease in 5 patients (4 males and 1 female) ranged from 9.7 to 28.0 months. During the acute phase, severe metabolic acidosis was observed with a pH of 6.9-7.1, as well as hypoglycaemia (2.3-3.4 mmol/L) and positive urinary ketone bodies (+-+++). Blood levels of methylcrotonyl carnitine, methylmalonyl carnitine and malonyl carnitine were 0.03-0.42, 0.34-1.43 and 0.83-3.53 μmol/L respectively and were significantly elevated. Urinary 2-methyl-3-hydroxybutyric acid was 22-202 and 3-hydroxybutyric acid was 4-6 066, both were higher than the normal levels. Met
doi_str_mv	10.3760/cma.j.cn112140-20230803-00071
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The clinical characteristics, biochemical, markers detected by tandem mass spectrometry (MS/MS) and gas chromatography-mass spectrometry (GC/MS), as well as the variants in ACAT1 gene among 5 children with BKTD in Children's Hospital of Chongqing Medical University between October 2018 and December 2022 were retrospectively analyzed. The onset age of the disease in 5 patients (4 males and 1 female) ranged from 9.7 to 28.0 months. During the acute phase, severe metabolic acidosis was observed with a pH of 6.9-7.1, as well as hypoglycaemia (2.3-3.4 mmol/L) and positive urinary ketone bodies (+-+++). Blood levels of methylcrotonyl carnitine, methylmalonyl carnitine and malonyl carnitine were 0.03-0.42, 0.34-1.43 and 0.83-3.53 μmol/L respectively and were significantly elevated. Urinary 2-methyl-3-hydroxybutyric acid was 22-202 and 3-hydroxybutyric acid was 4-6 066, both were higher than the normal levels. Met</description><identifier>ISSN: 0578-1310</identifier><identifier>DOI: 10.3760/cma.j.cn112140-20230803-00071</identifier><identifier>PMID: 38154980</identifier><language>chi</language><publisher>China</publisher><subject>Acidosis ; Carnitine ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Retrospective Studies ; Tandem Mass Spectrometry</subject><ispartof>Zhonghua er ke za zhi, 2024-01, Vol.62 (1), p.66-70</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38154980$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhang, J</creatorcontrib><creatorcontrib>Yu, C W</creatorcontrib><creatorcontrib>Wang, M</creatorcontrib><creatorcontrib>Wan, K X</creatorcontrib><creatorcontrib>Yang, J</creatorcontrib><creatorcontrib>Yuan, Z J</creatorcontrib><creatorcontrib>Liao, Z H</creatorcontrib><creatorcontrib>Wang, D J</creatorcontrib><title>Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency</title><title>Zhonghua er ke za zhi</title><addtitle>Zhonghua Er Ke Za Zhi</addtitle><description>To summarize the clinical and genetic characteristics of children with β-ketothiolase deficiency (BKTD). 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Met</description><subject>Acidosis</subject><subject>Carnitine</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Retrospective Studies</subject><subject>Tandem Mass Spectrometry</subject><issn>0578-1310</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpNkMtKAzEYhbNQbKl9BclGcDP1_5NMLksp3qDgpvshk2RsdG42KTKv5YP4TBas4Opwzvk4i0PINcKKKwm3rrOrt5XrERkKKBgwDhp4AQAKz8gcSqUL5Agzskwp1sClEAwEvyAzrrEURsOc1Os29tHZlo670A95GqOjtvf09Z-z7ZRiokNDSzoGH23eH_PR5hj6nOhnzDv6_VW8hzzkXRxamwL1oYnu2Lvpkpw3tk1hedIF2T7cb9dPxebl8Xl9tynGUkLhnRDClIo5j1ogOOYb5pkxSpWqltqUaFRT14EZxg14YDUoJXkjtZUgJF-Qm9_ZcT98HELKVReTC21r-zAcUsUMaGQcEY_o1Qk91F3w1biPnd1P1d8t_AdlHGd7</recordid><startdate>20240102</startdate><enddate>20240102</enddate><creator>Zhang, J</creator><creator>Yu, C W</creator><creator>Wang, M</creator><creator>Wan, K X</creator><creator>Yang, J</creator><creator>Yuan, Z J</creator><creator>Liao, Z H</creator><creator>Wang, D J</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20240102</creationdate><title>Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency</title><author>Zhang, J ; Yu, C W ; Wang, M ; Wan, K X ; Yang, J ; Yuan, Z J ; Liao, Z H ; Wang, D J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-p560-dc4449572cd18410c2df2d2997757b6895197fbbe292390d02b07763f68a60463</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>chi</language><creationdate>2024</creationdate><topic>Acidosis</topic><topic>Carnitine</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Retrospective Studies</topic><topic>Tandem Mass Spectrometry</topic><toplevel>online_resources</toplevel><creatorcontrib>Zhang, J</creatorcontrib><creatorcontrib>Yu, C W</creatorcontrib><creatorcontrib>Wang, M</creatorcontrib><creatorcontrib>Wan, K X</creatorcontrib><creatorcontrib>Yang, J</creatorcontrib><creatorcontrib>Yuan, Z J</creatorcontrib><creatorcontrib>Liao, Z H</creatorcontrib><creatorcontrib>Wang, D J</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Zhonghua er ke za zhi</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhang, J</au><au>Yu, C W</au><au>Wang, M</au><au>Wan, K X</au><au>Yang, J</au><au>Yuan, Z J</au><au>Liao, Z H</au><au>Wang, D J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency</atitle><jtitle>Zhonghua er ke za zhi</jtitle><addtitle>Zhonghua Er Ke Za Zhi</addtitle><date>2024-01-02</date><risdate>2024</risdate><volume>62</volume><issue>1</issue><spage>66</spage><epage>70</epage><pages>66-70</pages><issn>0578-1310</issn><abstract>To summarize the clinical and genetic characteristics of children with β-ketothiolase deficiency (BKTD). 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subjects	Acidosis Carnitine Child Child, Preschool Female Humans Infant Male Retrospective Studies Tandem Mass Spectrometry
title	Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency
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