Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients

Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Mal...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Journal of inherited metabolic disease 2010-12, Vol.33 (Suppl 3), p.489-495
Hauptverfasser: Chew, Hui Bein, Ngu, Lock Hock, Zabedah, Md Yunus, Keng, Wee Teik, Balasubramaniam, Shanti, Hanifah, Mohd Jamil M., Kobayashi, Keiko
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 495
container_issue Suppl 3
container_start_page 489
container_title Journal of inherited metabolic disease
container_volume 33
creator Chew, Hui Bein
Ngu, Lock Hock
Zabedah, Md Yunus
Keng, Wee Teik
Balasubramaniam, Shanti
Hanifah, Mohd Jamil M.
Kobayashi, Keiko
description Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been reported in the literature. We present the clinical features, biochemical findings and results of molecular analysis in 11 Malaysian children with NICCD. In this case series, all patients manifested prolonged cholestatic jaundice and elevated citrulline levels. The other more variable features included failure to thrive, bleeding diathesis, hypoproteinaemia, abnormal liver enzymes, prolonged coagulation profile, hyperammonaemia, hypergalactosaemia, multiple aminoacidaemia, elevated α-feto protein and urinary orotic acid as well as liver biopsies showing hepatitis and steatosis. DNA analysis of SLC25A13 revealed combinations of 851del4(Ex9), IVS16ins3kb and 1638ins23. Most of our patients recovered completely by the age of 22 months. However, one patient had ongoing symptoms at the time of reporting and one had died of liver failure. Since a small percentage of children with NICCD will develop CTLN2 and the mechanisms leading to this is yet to be defined, ongoing health surveillance into adulthood is essential.
doi_str_mv 10.1007/s10545-010-9248-6
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1430845576</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1430845576</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4209-98d5854b11e925af331afa942f196772aa188981472d4613aa262d252fed91693</originalsourceid><addsrcrecordid>eNqFkU1v1DAURSMEoqXwA9ggS2zKIuDn2InNrpryMagtm3ZtvTovjKuMM_hlVM2_b6YpqKqEWNmLc67u0y2KtyA_gpTNJwZptCklyNIpbcv6WXEIpqlKVdfm-aP_QfGK-UZK6awxL4sDBVBDZd1hwRc0JByxFzGNGVe0wTEGEVZDTzwiRxbIPISII7XiNo4rEeKYYxItdTFESmEnji-Wi8Xph88CRUAmwZQjsRg6ASDOsccdR0xiH01p5NfFiw57pjcP71Fx9fXL5eJ7efbz23JxclYGraQrnW2NNfoagJwy2FUVYIdOqw5c3TQKEax1FnSjWj2dg6hq1SqjOmod1K46Ko7n3E0efm-nc_w6cqC-x0TDlj3oSlptTFNP6Psn6M2wzWlqN1E1NEbLewpmKuSBOVPnNzmuMe88SL9fxM-L-GkRv1_E7513D8nb6zW1f40_E0xAMwO3safd_xP9j-X5qdT3pppNnqT0i_Kj0v_scweijqSU</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1461754076</pqid></control><display><type>article</type><title>Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients</title><source>MEDLINE</source><source>SpringerNature Journals</source><source>Access via Wiley Online Library</source><creator>Chew, Hui Bein ; Ngu, Lock Hock ; Zabedah, Md Yunus ; Keng, Wee Teik ; Balasubramaniam, Shanti ; Hanifah, Mohd Jamil M. ; Kobayashi, Keiko</creator><creatorcontrib>Chew, Hui Bein ; Ngu, Lock Hock ; Zabedah, Md Yunus ; Keng, Wee Teik ; Balasubramaniam, Shanti ; Hanifah, Mohd Jamil M. ; Kobayashi, Keiko</creatorcontrib><description>Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been reported in the literature. We present the clinical features, biochemical findings and results of molecular analysis in 11 Malaysian children with NICCD. In this case series, all patients manifested prolonged cholestatic jaundice and elevated citrulline levels. The other more variable features included failure to thrive, bleeding diathesis, hypoproteinaemia, abnormal liver enzymes, prolonged coagulation profile, hyperammonaemia, hypergalactosaemia, multiple aminoacidaemia, elevated α-feto protein and urinary orotic acid as well as liver biopsies showing hepatitis and steatosis. DNA analysis of SLC25A13 revealed combinations of 851del4(Ex9), IVS16ins3kb and 1638ins23. Most of our patients recovered completely by the age of 22 months. However, one patient had ongoing symptoms at the time of reporting and one had died of liver failure. Since a small percentage of children with NICCD will develop CTLN2 and the mechanisms leading to this is yet to be defined, ongoing health surveillance into adulthood is essential.</description><identifier>ISSN: 1573-2665</identifier><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-010-9248-6</identifier><identifier>PMID: 21161389</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Asian Continental Ancestry Group - genetics ; Biochemistry ; Biomarkers - blood ; Case Report ; Citrulline - blood ; Citrullinemia - complications ; Citrullinemia - diagnosis ; Citrullinemia - ethnology ; Citrullinemia - genetics ; Citrullinemia - metabolism ; Citrullinemia - therapy ; DNA Mutational Analysis ; Exons ; Fatal Outcome ; Female ; Genetic Predisposition to Disease ; Heredity ; Human Genetics ; Humans ; Infant ; Infant, Newborn ; Internal Medicine ; Jaundice, Obstructive - etiology ; Liver Failure - etiology ; Malaysia - epidemiology ; Male ; Medicine ; Medicine &amp; Public Health ; Metabolic Diseases ; Mitochondrial Membrane Transport Proteins - genetics ; Mitochondrial Membrane Transport Proteins - metabolism ; Mutation ; Pediatrics ; Pedigree ; Phenotype ; Prognosis ; Time Factors</subject><ispartof>Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.489-495</ispartof><rights>SSIEM and Springer 2010</rights><rights>2010 SSIEM</rights><rights>SSIEM and Springer Science+Business Media Dordrecht 2010</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4209-98d5854b11e925af331afa942f196772aa188981472d4613aa262d252fed91693</citedby><cites>FETCH-LOGICAL-c4209-98d5854b11e925af331afa942f196772aa188981472d4613aa262d252fed91693</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10545-010-9248-6$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10545-010-9248-6$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,41488,42557,45574,45575,51319</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21161389$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chew, Hui Bein</creatorcontrib><creatorcontrib>Ngu, Lock Hock</creatorcontrib><creatorcontrib>Zabedah, Md Yunus</creatorcontrib><creatorcontrib>Keng, Wee Teik</creatorcontrib><creatorcontrib>Balasubramaniam, Shanti</creatorcontrib><creatorcontrib>Hanifah, Mohd Jamil M.</creatorcontrib><creatorcontrib>Kobayashi, Keiko</creatorcontrib><title>Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><addtitle>J Inherit Metab Dis</addtitle><description>Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been reported in the literature. We present the clinical features, biochemical findings and results of molecular analysis in 11 Malaysian children with NICCD. In this case series, all patients manifested prolonged cholestatic jaundice and elevated citrulline levels. The other more variable features included failure to thrive, bleeding diathesis, hypoproteinaemia, abnormal liver enzymes, prolonged coagulation profile, hyperammonaemia, hypergalactosaemia, multiple aminoacidaemia, elevated α-feto protein and urinary orotic acid as well as liver biopsies showing hepatitis and steatosis. DNA analysis of SLC25A13 revealed combinations of 851del4(Ex9), IVS16ins3kb and 1638ins23. Most of our patients recovered completely by the age of 22 months. However, one patient had ongoing symptoms at the time of reporting and one had died of liver failure. Since a small percentage of children with NICCD will develop CTLN2 and the mechanisms leading to this is yet to be defined, ongoing health surveillance into adulthood is essential.</description><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biochemistry</subject><subject>Biomarkers - blood</subject><subject>Case Report</subject><subject>Citrulline - blood</subject><subject>Citrullinemia - complications</subject><subject>Citrullinemia - diagnosis</subject><subject>Citrullinemia - ethnology</subject><subject>Citrullinemia - genetics</subject><subject>Citrullinemia - metabolism</subject><subject>Citrullinemia - therapy</subject><subject>DNA Mutational Analysis</subject><subject>Exons</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Heredity</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Internal Medicine</subject><subject>Jaundice, Obstructive - etiology</subject><subject>Liver Failure - etiology</subject><subject>Malaysia - epidemiology</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine &amp; Public Health</subject><subject>Metabolic Diseases</subject><subject>Mitochondrial Membrane Transport Proteins - genetics</subject><subject>Mitochondrial Membrane Transport Proteins - metabolism</subject><subject>Mutation</subject><subject>Pediatrics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Prognosis</subject><subject>Time Factors</subject><issn>1573-2665</issn><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkU1v1DAURSMEoqXwA9ggS2zKIuDn2InNrpryMagtm3ZtvTovjKuMM_hlVM2_b6YpqKqEWNmLc67u0y2KtyA_gpTNJwZptCklyNIpbcv6WXEIpqlKVdfm-aP_QfGK-UZK6awxL4sDBVBDZd1hwRc0JByxFzGNGVe0wTEGEVZDTzwiRxbIPISII7XiNo4rEeKYYxItdTFESmEnji-Wi8Xph88CRUAmwZQjsRg6ASDOsccdR0xiH01p5NfFiw57pjcP71Fx9fXL5eJ7efbz23JxclYGraQrnW2NNfoagJwy2FUVYIdOqw5c3TQKEax1FnSjWj2dg6hq1SqjOmod1K46Ko7n3E0efm-nc_w6cqC-x0TDlj3oSlptTFNP6Psn6M2wzWlqN1E1NEbLewpmKuSBOVPnNzmuMe88SL9fxM-L-GkRv1_E7513D8nb6zW1f40_E0xAMwO3safd_xP9j-X5qdT3pppNnqT0i_Kj0v_scweijqSU</recordid><startdate>201012</startdate><enddate>201012</enddate><creator>Chew, Hui Bein</creator><creator>Ngu, Lock Hock</creator><creator>Zabedah, Md Yunus</creator><creator>Keng, Wee Teik</creator><creator>Balasubramaniam, Shanti</creator><creator>Hanifah, Mohd Jamil M.</creator><creator>Kobayashi, Keiko</creator><general>Springer Netherlands</general><general>Blackwell Publishing Ltd</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>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</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>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>7X8</scope></search><sort><creationdate>201012</creationdate><title>Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients</title><author>Chew, Hui Bein ; Ngu, Lock Hock ; Zabedah, Md Yunus ; Keng, Wee Teik ; Balasubramaniam, Shanti ; Hanifah, Mohd Jamil M. ; Kobayashi, Keiko</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4209-98d5854b11e925af331afa942f196772aa188981472d4613aa262d252fed91693</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Asian Continental Ancestry Group - genetics</topic><topic>Biochemistry</topic><topic>Biomarkers - blood</topic><topic>Case Report</topic><topic>Citrulline - blood</topic><topic>Citrullinemia - complications</topic><topic>Citrullinemia - diagnosis</topic><topic>Citrullinemia - ethnology</topic><topic>Citrullinemia - genetics</topic><topic>Citrullinemia - metabolism</topic><topic>Citrullinemia - therapy</topic><topic>DNA Mutational Analysis</topic><topic>Exons</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Heredity</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Internal Medicine</topic><topic>Jaundice, Obstructive - etiology</topic><topic>Liver Failure - etiology</topic><topic>Malaysia - epidemiology</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine &amp; Public Health</topic><topic>Metabolic Diseases</topic><topic>Mitochondrial Membrane Transport Proteins - genetics</topic><topic>Mitochondrial Membrane Transport Proteins - metabolism</topic><topic>Mutation</topic><topic>Pediatrics</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Prognosis</topic><topic>Time Factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chew, Hui Bein</creatorcontrib><creatorcontrib>Ngu, Lock Hock</creatorcontrib><creatorcontrib>Zabedah, Md Yunus</creatorcontrib><creatorcontrib>Keng, Wee Teik</creatorcontrib><creatorcontrib>Balasubramaniam, Shanti</creatorcontrib><creatorcontrib>Hanifah, Mohd Jamil M.</creatorcontrib><creatorcontrib>Kobayashi, Keiko</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>Calcium &amp; Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</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 &amp; Medical Complete (Alumni)</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Medical 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>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chew, Hui Bein</au><au>Ngu, Lock Hock</au><au>Zabedah, Md Yunus</au><au>Keng, Wee Teik</au><au>Balasubramaniam, Shanti</au><au>Hanifah, Mohd Jamil M.</au><au>Kobayashi, Keiko</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2010-12</date><risdate>2010</risdate><volume>33</volume><issue>Suppl 3</issue><spage>489</spage><epage>495</epage><pages>489-495</pages><issn>1573-2665</issn><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been reported in the literature. We present the clinical features, biochemical findings and results of molecular analysis in 11 Malaysian children with NICCD. In this case series, all patients manifested prolonged cholestatic jaundice and elevated citrulline levels. The other more variable features included failure to thrive, bleeding diathesis, hypoproteinaemia, abnormal liver enzymes, prolonged coagulation profile, hyperammonaemia, hypergalactosaemia, multiple aminoacidaemia, elevated α-feto protein and urinary orotic acid as well as liver biopsies showing hepatitis and steatosis. DNA analysis of SLC25A13 revealed combinations of 851del4(Ex9), IVS16ins3kb and 1638ins23. Most of our patients recovered completely by the age of 22 months. However, one patient had ongoing symptoms at the time of reporting and one had died of liver failure. Since a small percentage of children with NICCD will develop CTLN2 and the mechanisms leading to this is yet to be defined, ongoing health surveillance into adulthood is essential.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>21161389</pmid><doi>10.1007/s10545-010-9248-6</doi><tpages>7</tpages></addata></record>
fulltext fulltext
identifier ISSN: 1573-2665
ispartof Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.489-495
issn 1573-2665
0141-8955
1573-2665
language eng
recordid cdi_proquest_miscellaneous_1430845576
source MEDLINE; SpringerNature Journals; Access via Wiley Online Library
subjects Asian Continental Ancestry Group - genetics
Biochemistry
Biomarkers - blood
Case Report
Citrulline - blood
Citrullinemia - complications
Citrullinemia - diagnosis
Citrullinemia - ethnology
Citrullinemia - genetics
Citrullinemia - metabolism
Citrullinemia - therapy
DNA Mutational Analysis
Exons
Fatal Outcome
Female
Genetic Predisposition to Disease
Heredity
Human Genetics
Humans
Infant
Infant, Newborn
Internal Medicine
Jaundice, Obstructive - etiology
Liver Failure - etiology
Malaysia - epidemiology
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Mitochondrial Membrane Transport Proteins - genetics
Mitochondrial Membrane Transport Proteins - metabolism
Mutation
Pediatrics
Pedigree
Phenotype
Prognosis
Time Factors
title Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-25T20%3A52%3A43IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Neonatal%20intrahepatic%20cholestasis%20associated%20with%20citrin%20deficiency%20(NICCD):%20a%20case%20series%20of%2011%20Malaysian%20patients&rft.jtitle=Journal%20of%20inherited%20metabolic%20disease&rft.au=Chew,%20Hui%20Bein&rft.date=2010-12&rft.volume=33&rft.issue=Suppl%203&rft.spage=489&rft.epage=495&rft.pages=489-495&rft.issn=1573-2665&rft.eissn=1573-2665&rft_id=info:doi/10.1007/s10545-010-9248-6&rft_dat=%3Cproquest_cross%3E1430845576%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1461754076&rft_id=info:pmid/21161389&rfr_iscdi=true