Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency
Pyroglutamic aciduria (5‐oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5‐oxoprolinase deficiency. GSSD results in low glutathione levels in erythrocytes and may present with hemolytic anemia alone or together with pyroglutamic acid...
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| Veröffentlicht in: | Clinical genetics 1999-06, Vol.55 (6), p.444-449 |
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| creator | Al-Jishi, E Meyer, Bf Rashed, Ms Al-Essa, M Al-Hamed, Mh Sakati, N Sanjad, S Ozand, Pt Kambouris, M |
| description | Pyroglutamic aciduria (5‐oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5‐oxoprolinase deficiency. GSSD results in low glutathione levels in erythrocytes and may present with hemolytic anemia alone or together with pyroglutamic aciduria, metabolic acidosis, and CNS damage. Five patients with pyroglutamic aciduria were studied. All presented with hemolytic anemia and metabolic acidosis. Two (brothers) also had Fanconi nephropathy, which is not seen in pyroglutamic aciduria. Molecular analyses of the GSS gene was performed in 3 patients. RT‐PCR and heteroduplex analysis identified a homozygous deletion in 1 patient and a homozygous mutation in 2 others (brothers with Fanconi nephropathy). Sequencing of glutathione synthetase (GSS) cDNA from the first patient showed a 141‐bp deletion corresponding to the entire exon 4, whilst the corresponding genomic DNA showed a G491→A homozygous splice site mutation. Sequencing of GSS cDNA from the Fanconi nephropathy patients showed a C847→T [ARG283→CYS] mutation in exon 9. |
| doi_str_mv | 10.1034/j.1399-0004.1999.550608.x |
| format | Article |
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GSSD results in low glutathione levels in erythrocytes and may present with hemolytic anemia alone or together with pyroglutamic aciduria, metabolic acidosis, and CNS damage. Five patients with pyroglutamic aciduria were studied. All presented with hemolytic anemia and metabolic acidosis. Two (brothers) also had Fanconi nephropathy, which is not seen in pyroglutamic aciduria. Molecular analyses of the GSS gene was performed in 3 patients. RT‐PCR and heteroduplex analysis identified a homozygous deletion in 1 patient and a homozygous mutation in 2 others (brothers with Fanconi nephropathy). Sequencing of glutathione synthetase (GSS) cDNA from the first patient showed a 141‐bp deletion corresponding to the entire exon 4, whilst the corresponding genomic DNA showed a G491→A homozygous splice site mutation. Sequencing of GSS cDNA from the Fanconi nephropathy patients showed a C847→T [ARG283→CYS] mutation in exon 9.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1034/j.1399-0004.1999.550608.x</identifier><identifier>PMID: 10450861</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Copenhagen: Munksgaard International Publishers</publisher><subject>Aminoacid disorders ; Biological and medical sciences ; Errors of metabolism ; Fanconi nephropathy ; Female ; Gas Chromatography-Mass Spectrometry ; Gene Deletion ; Genes, Recessive ; Glutathione Synthase - deficiency ; Glutathione Synthase - genetics ; glutathione synthetase deficiency ; heteroduplex analysis ; Humans ; Infant ; Infant, Newborn ; Male ; Medical sciences ; Metabolic diseases ; Point Mutation ; pyroglutamic aciduria ; Reverse Transcriptase Polymerase Chain Reaction ; RT-PCR</subject><ispartof>Clinical genetics, 1999-06, Vol.55 (6), p.444-449</ispartof><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4378-243cd7f479fc38fc4b26764d7ef25ba915ba08b4470dabc215cdf096fafe801a3</citedby><cites>FETCH-LOGICAL-c4378-243cd7f479fc38fc4b26764d7ef25ba915ba08b4470dabc215cdf096fafe801a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1034%2Fj.1399-0004.1999.550608.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1034%2Fj.1399-0004.1999.550608.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1865952$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10450861$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Al-Jishi, E</creatorcontrib><creatorcontrib>Meyer, Bf</creatorcontrib><creatorcontrib>Rashed, Ms</creatorcontrib><creatorcontrib>Al-Essa, M</creatorcontrib><creatorcontrib>Al-Hamed, Mh</creatorcontrib><creatorcontrib>Sakati, N</creatorcontrib><creatorcontrib>Sanjad, S</creatorcontrib><creatorcontrib>Ozand, Pt</creatorcontrib><creatorcontrib>Kambouris, M</creatorcontrib><title>Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency</title><title>Clinical genetics</title><addtitle>Clinical Genetics</addtitle><description>Pyroglutamic aciduria (5‐oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5‐oxoprolinase deficiency. GSSD results in low glutathione levels in erythrocytes and may present with hemolytic anemia alone or together with pyroglutamic aciduria, metabolic acidosis, and CNS damage. Five patients with pyroglutamic aciduria were studied. All presented with hemolytic anemia and metabolic acidosis. Two (brothers) also had Fanconi nephropathy, which is not seen in pyroglutamic aciduria. Molecular analyses of the GSS gene was performed in 3 patients. RT‐PCR and heteroduplex analysis identified a homozygous deletion in 1 patient and a homozygous mutation in 2 others (brothers with Fanconi nephropathy). Sequencing of glutathione synthetase (GSS) cDNA from the first patient showed a 141‐bp deletion corresponding to the entire exon 4, whilst the corresponding genomic DNA showed a G491→A homozygous splice site mutation. Sequencing of GSS cDNA from the Fanconi nephropathy patients showed a C847→T [ARG283→CYS] mutation in exon 9.</description><subject>Aminoacid disorders</subject><subject>Biological and medical sciences</subject><subject>Errors of metabolism</subject><subject>Fanconi nephropathy</subject><subject>Female</subject><subject>Gas Chromatography-Mass Spectrometry</subject><subject>Gene Deletion</subject><subject>Genes, Recessive</subject><subject>Glutathione Synthase - deficiency</subject><subject>Glutathione Synthase - genetics</subject><subject>glutathione synthetase deficiency</subject><subject>heteroduplex analysis</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Point Mutation</subject><subject>pyroglutamic aciduria</subject><subject>Reverse Transcriptase Polymerase Chain Reaction</subject><subject>RT-PCR</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1v1DAQhi0EokvhLyAjoZ5IaseOHd-gq3YBVeVAoRIXy3Fs4iUfi-2ou_x6HGVVeuTimdG8887oMQBvMMoxIvR8m2MiRIYQojkWQuRliRiq8v0TsHroPAWrFEQmMCMn4EUI21QSXorn4AQjWqKK4RVo150bnFbdO1i7UbemXwo1NLAfO6OnTnmoW-WVjsa7Pyq6cYCjhbuUmSEGeO9iC392U1SxTT0Dw2GIrYkqGNgY63SS6cNL8MyqLphXx3gKvl1d3q4_ZtdfNp_WH64zTQmvsoIS3XBLubCaVFbTumCc0YYbW5S1Ejg9qKop5ahRtS5wqRuLBLPKmgphRU7B2eK78-PvyYQoexe06To1mHEKkgnBKcFFEopFqP0YgjdW7rzrlT9IjOSMWW7lDFPOMOWMWS6Y5T7Nvj4umereNI8mF65J8PYoUCHxtF4N2oV_uoqVopxveL_I7l1nDv9_gFxvLpc8WWSLhQvR7B8slP8lGU_fLe9uNvLi89er2x_fb-Qd-QvoW6r8</recordid><startdate>199906</startdate><enddate>199906</enddate><creator>Al-Jishi, E</creator><creator>Meyer, Bf</creator><creator>Rashed, Ms</creator><creator>Al-Essa, M</creator><creator>Al-Hamed, Mh</creator><creator>Sakati, N</creator><creator>Sanjad, S</creator><creator>Ozand, Pt</creator><creator>Kambouris, M</creator><general>Munksgaard International Publishers</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><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>7X8</scope></search><sort><creationdate>199906</creationdate><title>Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency</title><author>Al-Jishi, E ; Meyer, Bf ; Rashed, Ms ; Al-Essa, M ; Al-Hamed, Mh ; Sakati, N ; Sanjad, S ; Ozand, Pt ; Kambouris, M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4378-243cd7f479fc38fc4b26764d7ef25ba915ba08b4470dabc215cdf096fafe801a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1999</creationdate><topic>Aminoacid disorders</topic><topic>Biological and medical sciences</topic><topic>Errors of metabolism</topic><topic>Fanconi nephropathy</topic><topic>Female</topic><topic>Gas Chromatography-Mass Spectrometry</topic><topic>Gene Deletion</topic><topic>Genes, Recessive</topic><topic>Glutathione Synthase - deficiency</topic><topic>Glutathione Synthase - genetics</topic><topic>glutathione synthetase deficiency</topic><topic>heteroduplex analysis</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Point Mutation</topic><topic>pyroglutamic aciduria</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>RT-PCR</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Al-Jishi, E</creatorcontrib><creatorcontrib>Meyer, Bf</creatorcontrib><creatorcontrib>Rashed, Ms</creatorcontrib><creatorcontrib>Al-Essa, M</creatorcontrib><creatorcontrib>Al-Hamed, Mh</creatorcontrib><creatorcontrib>Sakati, N</creatorcontrib><creatorcontrib>Sanjad, S</creatorcontrib><creatorcontrib>Ozand, Pt</creatorcontrib><creatorcontrib>Kambouris, M</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Al-Jishi, E</au><au>Meyer, Bf</au><au>Rashed, Ms</au><au>Al-Essa, M</au><au>Al-Hamed, Mh</au><au>Sakati, N</au><au>Sanjad, S</au><au>Ozand, Pt</au><au>Kambouris, M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clinical Genetics</addtitle><date>1999-06</date><risdate>1999</risdate><volume>55</volume><issue>6</issue><spage>444</spage><epage>449</epage><pages>444-449</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>Pyroglutamic aciduria (5‐oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5‐oxoprolinase deficiency. GSSD results in low glutathione levels in erythrocytes and may present with hemolytic anemia alone or together with pyroglutamic aciduria, metabolic acidosis, and CNS damage. Five patients with pyroglutamic aciduria were studied. All presented with hemolytic anemia and metabolic acidosis. Two (brothers) also had Fanconi nephropathy, which is not seen in pyroglutamic aciduria. Molecular analyses of the GSS gene was performed in 3 patients. RT‐PCR and heteroduplex analysis identified a homozygous deletion in 1 patient and a homozygous mutation in 2 others (brothers with Fanconi nephropathy). Sequencing of glutathione synthetase (GSS) cDNA from the first patient showed a 141‐bp deletion corresponding to the entire exon 4, whilst the corresponding genomic DNA showed a G491→A homozygous splice site mutation. Sequencing of GSS cDNA from the Fanconi nephropathy patients showed a C847→T [ARG283→CYS] mutation in exon 9.</abstract><cop>Copenhagen</cop><pub>Munksgaard International Publishers</pub><pmid>10450861</pmid><doi>10.1034/j.1399-0004.1999.550608.x</doi><tpages>6</tpages></addata></record> |
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| subjects | Aminoacid disorders Biological and medical sciences Errors of metabolism Fanconi nephropathy Female Gas Chromatography-Mass Spectrometry Gene Deletion Genes, Recessive Glutathione Synthase - deficiency Glutathione Synthase - genetics glutathione synthetase deficiency heteroduplex analysis Humans Infant Infant, Newborn Male Medical sciences Metabolic diseases Point Mutation pyroglutamic aciduria Reverse Transcriptase Polymerase Chain Reaction RT-PCR |
| title | Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency |
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