Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant
While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriate...
Gespeichert in:
| Veröffentlicht in: | Curēus (Palo Alto, CA) CA), 2021-10, Vol.13 (10) |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 10 |
| container_start_page | |
| container_title | Curēus (Palo Alto, CA) |
| container_volume | 13 |
| creator | Alamoudi, Loujen O Alfaraidi, Albaraa T Althagafi, Samiyah S Al-Thaqafy, Majid S Hasosah, Mohammed |
| description | While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately. Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians. We report the clinical and diagnostic course of a seven-month-old Saudi infant who presented with severe recurrent episodes of watery diarrhea and failure to thrive in early infancy despite standard treatment. Molecular testing identified that our patient had a compound heterozygous variant in SLC5A1. Fructose-based formulae have been proven to be effective in treating GGM. This case highlights the importance of early diagnosis and timely management to prevent serious complications of undiagnosed GGM. |
| doi_str_mv | 10.7759/cureus.18440 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8559579</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2622956016</sourcerecordid><originalsourceid>FETCH-LOGICAL-c243t-9503fc85e5259bcb6f31b2bd2af235af05b4fc67c32ed957df01995d5f064fb93</originalsourceid><addsrcrecordid>eNpVkU9LAzEQxYMottTe_AABr67mz2Z340Eoi9ZCq4cqHkM2m7RbtklNsoLf3q0toqd5M_P4zcAD4BKjmzxn_FZ1XnfhBhdpik7AkOCsSIq-O_2jB2AcwgYhhFFOUI7OwYCmOc05KoZAls6utG2ibOG07ZQLOpnKVqrYK7joVRWc38XG2Ts4gaXsp-9NXEMJn92nbuFyXrIJhosuyr0JNrZfLWVXN3BmjbTxApwZ2QY9PtYReHt8eC2fkvnLdFZO5okiKY0JZ4gaVTDNCOOVqjJDcUWqmkhDKJMGsSo1KssVJbrmLK8NwpyzmhmUpabidATuD9xdV211rbSNXrZi55ut9F_CyUb839hmLVbuUxSM9bw94OoI8O6j0yGKjeu87X8WJCOEswzhrHddH1zKuxC8Nr8XMBL7TMQhE_GTCf0GEQp-3g</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2622956016</pqid></control><display><type>article</type><title>Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant</title><source>PubMed Central Open Access</source><source>PubMed Central</source><creator>Alamoudi, Loujen O ; Alfaraidi, Albaraa T ; Althagafi, Samiyah S ; Al-Thaqafy, Majid S ; Hasosah, Mohammed</creator><creatorcontrib>Alamoudi, Loujen O ; Alfaraidi, Albaraa T ; Althagafi, Samiyah S ; Al-Thaqafy, Majid S ; Hasosah, Mohammed</creatorcontrib><description>While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately. Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians. We report the clinical and diagnostic course of a seven-month-old Saudi infant who presented with severe recurrent episodes of watery diarrhea and failure to thrive in early infancy despite standard treatment. Molecular testing identified that our patient had a compound heterozygous variant in SLC5A1. Fructose-based formulae have been proven to be effective in treating GGM. This case highlights the importance of early diagnosis and timely management to prevent serious complications of undiagnosed GGM.</description><identifier>ISSN: 2168-8184</identifier><identifier>EISSN: 2168-8184</identifier><identifier>DOI: 10.7759/cureus.18440</identifier><identifier>PMID: 34737908</identifier><language>eng</language><publisher>Palo Alto: Cureus Inc</publisher><subject>Abdomen ; Age ; Babies ; Carbohydrates ; Case reports ; Congenital diseases ; Diarrhea ; Diet ; Families & family life ; Family medical history ; Gastroenterology ; Genetic counseling ; Genetics ; Glucose ; Hemoglobin ; Lactose ; Milk ; Mutation ; Newborn babies ; Parents & parenting ; Patients ; Pediatrics</subject><ispartof>Curēus (Palo Alto, CA), 2021-10, Vol.13 (10)</ispartof><rights>Copyright © 2021, Alamoudi et al. This work is published under https://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Copyright © 2021, Alamoudi et al. 2021 Alamoudi et al.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c243t-9503fc85e5259bcb6f31b2bd2af235af05b4fc67c32ed957df01995d5f064fb93</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559579/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8559579/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids></links><search><creatorcontrib>Alamoudi, Loujen O</creatorcontrib><creatorcontrib>Alfaraidi, Albaraa T</creatorcontrib><creatorcontrib>Althagafi, Samiyah S</creatorcontrib><creatorcontrib>Al-Thaqafy, Majid S</creatorcontrib><creatorcontrib>Hasosah, Mohammed</creatorcontrib><title>Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant</title><title>Curēus (Palo Alto, CA)</title><description>While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately. Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians. We report the clinical and diagnostic course of a seven-month-old Saudi infant who presented with severe recurrent episodes of watery diarrhea and failure to thrive in early infancy despite standard treatment. Molecular testing identified that our patient had a compound heterozygous variant in SLC5A1. Fructose-based formulae have been proven to be effective in treating GGM. This case highlights the importance of early diagnosis and timely management to prevent serious complications of undiagnosed GGM.</description><subject>Abdomen</subject><subject>Age</subject><subject>Babies</subject><subject>Carbohydrates</subject><subject>Case reports</subject><subject>Congenital diseases</subject><subject>Diarrhea</subject><subject>Diet</subject><subject>Families & family life</subject><subject>Family medical history</subject><subject>Gastroenterology</subject><subject>Genetic counseling</subject><subject>Genetics</subject><subject>Glucose</subject><subject>Hemoglobin</subject><subject>Lactose</subject><subject>Milk</subject><subject>Mutation</subject><subject>Newborn babies</subject><subject>Parents & parenting</subject><subject>Patients</subject><subject>Pediatrics</subject><issn>2168-8184</issn><issn>2168-8184</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><recordid>eNpVkU9LAzEQxYMottTe_AABr67mz2Z340Eoi9ZCq4cqHkM2m7RbtklNsoLf3q0toqd5M_P4zcAD4BKjmzxn_FZ1XnfhBhdpik7AkOCsSIq-O_2jB2AcwgYhhFFOUI7OwYCmOc05KoZAls6utG2ibOG07ZQLOpnKVqrYK7joVRWc38XG2Ts4gaXsp-9NXEMJn92nbuFyXrIJhosuyr0JNrZfLWVXN3BmjbTxApwZ2QY9PtYReHt8eC2fkvnLdFZO5okiKY0JZ4gaVTDNCOOVqjJDcUWqmkhDKJMGsSo1KssVJbrmLK8NwpyzmhmUpabidATuD9xdV211rbSNXrZi55ut9F_CyUb839hmLVbuUxSM9bw94OoI8O6j0yGKjeu87X8WJCOEswzhrHddH1zKuxC8Nr8XMBL7TMQhE_GTCf0GEQp-3g</recordid><startdate>20211002</startdate><enddate>20211002</enddate><creator>Alamoudi, Loujen O</creator><creator>Alfaraidi, Albaraa T</creator><creator>Althagafi, Samiyah S</creator><creator>Al-Thaqafy, Majid S</creator><creator>Hasosah, Mohammed</creator><general>Cureus Inc</general><general>Cureus</general><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>5PM</scope></search><sort><creationdate>20211002</creationdate><title>Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant</title><author>Alamoudi, Loujen O ; Alfaraidi, Albaraa T ; Althagafi, Samiyah S ; Al-Thaqafy, Majid S ; Hasosah, Mohammed</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c243t-9503fc85e5259bcb6f31b2bd2af235af05b4fc67c32ed957df01995d5f064fb93</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Abdomen</topic><topic>Age</topic><topic>Babies</topic><topic>Carbohydrates</topic><topic>Case reports</topic><topic>Congenital diseases</topic><topic>Diarrhea</topic><topic>Diet</topic><topic>Families & family life</topic><topic>Family medical history</topic><topic>Gastroenterology</topic><topic>Genetic counseling</topic><topic>Genetics</topic><topic>Glucose</topic><topic>Hemoglobin</topic><topic>Lactose</topic><topic>Milk</topic><topic>Mutation</topic><topic>Newborn babies</topic><topic>Parents & parenting</topic><topic>Patients</topic><topic>Pediatrics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Alamoudi, Loujen O</creatorcontrib><creatorcontrib>Alfaraidi, Albaraa T</creatorcontrib><creatorcontrib>Althagafi, Samiyah S</creatorcontrib><creatorcontrib>Al-Thaqafy, Majid S</creatorcontrib><creatorcontrib>Hasosah, Mohammed</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</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 Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Curēus (Palo Alto, CA)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Alamoudi, Loujen O</au><au>Alfaraidi, Albaraa T</au><au>Althagafi, Samiyah S</au><au>Al-Thaqafy, Majid S</au><au>Hasosah, Mohammed</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant</atitle><jtitle>Curēus (Palo Alto, CA)</jtitle><date>2021-10-02</date><risdate>2021</risdate><volume>13</volume><issue>10</issue><issn>2168-8184</issn><eissn>2168-8184</eissn><abstract>While only a few hundred cases have been reported in pediatrics, congenital glucose-galactose malabsorption (GGM) is an extremely rare autosomal-recessive metabolic disorder that is characterized by intractable diarrhea and severe dehydration, which can be life-threatening if not treated appropriately. Due to the rarity of the disease, it is challenging to consider GGM as an initial diagnosis for most clinicians. We report the clinical and diagnostic course of a seven-month-old Saudi infant who presented with severe recurrent episodes of watery diarrhea and failure to thrive in early infancy despite standard treatment. Molecular testing identified that our patient had a compound heterozygous variant in SLC5A1. Fructose-based formulae have been proven to be effective in treating GGM. This case highlights the importance of early diagnosis and timely management to prevent serious complications of undiagnosed GGM.</abstract><cop>Palo Alto</cop><pub>Cureus Inc</pub><pmid>34737908</pmid><doi>10.7759/cureus.18440</doi><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2168-8184 |
| ispartof | Curēus (Palo Alto, CA), 2021-10, Vol.13 (10) |
| issn | 2168-8184 2168-8184 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8559579 |
| source | PubMed Central Open Access; PubMed Central |
| subjects | Abdomen Age Babies Carbohydrates Case reports Congenital diseases Diarrhea Diet Families & family life Family medical history Gastroenterology Genetic counseling Genetics Glucose Hemoglobin Lactose Milk Mutation Newborn babies Parents & parenting Patients Pediatrics |
| title | Congenital Glucose-Galactose Malabsorption: A Case With a Novel SLC5A1 Mutation in a Saudi Infant |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-28T04%3A33%3A51IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Congenital%20Glucose-Galactose%20Malabsorption:%20A%20Case%20With%20a%20Novel%20SLC5A1%20Mutation%20in%20a%20Saudi%20Infant&rft.jtitle=Cur%C4%93us%20(Palo%20Alto,%20CA)&rft.au=Alamoudi,%20Loujen%20O&rft.date=2021-10-02&rft.volume=13&rft.issue=10&rft.issn=2168-8184&rft.eissn=2168-8184&rft_id=info:doi/10.7759/cureus.18440&rft_dat=%3Cproquest_pubme%3E2622956016%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2622956016&rft_id=info:pmid/34737908&rfr_iscdi=true |