Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency
A complete deficiency of inosine triphosphate pyrophosphohydrolase (ITPase) has been identified, together with high concentrations (mean 157 μmol/l) of the unusual nucleotide ITP, in the erythrocytes of 3 members of a consanguineous United Kingdom kindred. The defect has been noted previously in Nor...
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| Veröffentlicht in: | Clinica chimica acta 1990-05, Vol.188 (3), p.243-252 |
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| container_title | Clinica chimica acta |
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| creator | Duley, John A. Simmonds, H.Anne Hopkinson, David A. Levinsky, Roland J. |
| description | A complete deficiency of inosine triphosphate pyrophosphohydrolase (ITPase) has been identified, together with high concentrations (mean 157 μmol/l) of the unusual nucleotide ITP, in the erythrocytes of 3 members of a consanguineous United Kingdom kindred. The defect has been noted previously in North America and Sweden, but even in presumed homozygotes some residual ITPase activity was reported.
Homozygosity for the defect has not been associated previously with any clinical abnormality. In this kindred it was co-existent with adenosine deaminase (ADA) deficient severe combined immunodeficiency. Since the genes for both ITPase and ADA are localised on the same chromosome, segregation analysis of ITPase and ADA activity was undertaken in available kindred members. The results confirmed an autosomal recessive mode of inheritance for ITPase deficiency, but suggested that the co-existence with ADA deficiency was coincidental. |
| doi_str_mv | 10.1016/0009-8981(90)90206-8 |
| format | Article |
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Homozygosity for the defect has not been associated previously with any clinical abnormality. In this kindred it was co-existent with adenosine deaminase (ADA) deficient severe combined immunodeficiency. Since the genes for both ITPase and ADA are localised on the same chromosome, segregation analysis of ITPase and ADA activity was undertaken in available kindred members. The results confirmed an autosomal recessive mode of inheritance for ITPase deficiency, but suggested that the co-existence with ADA deficiency was coincidental.</description><identifier>ISSN: 0009-8981</identifier><identifier>EISSN: 1873-3492</identifier><identifier>DOI: 10.1016/0009-8981(90)90206-8</identifier><identifier>PMID: 2167185</identifier><identifier>CODEN: CCATAR</identifier><language>eng</language><publisher>Shannon: Elsevier B.V</publisher><subject>Adenosine Deaminase - blood ; Adenosine Deaminase - deficiency ; Biological and medical sciences ; Consanguinity ; Errors of metabolism ; Erythrocytes - enzymology ; Female ; Humans ; Immunodeficiency ; Infant, Newborn ; Inosine Triphosphatase ; Inosine triphosphate pyrophosphohydrolase deficiency ; ITP ; Male ; Medical sciences ; Metabolic diseases ; Metabolism, Inborn Errors - blood ; Metabolism, Inborn Errors - enzymology ; Metabolism, Inborn Errors - genetics ; Miscellaneous hereditary metabolic disorders ; Nucleoside Deaminases - deficiency ; Nucleotides - blood ; Pedigree ; Pyrophosphatases - blood ; Pyrophosphatases - deficiency</subject><ispartof>Clinica chimica acta, 1990-05, Vol.188 (3), p.243-252</ispartof><rights>1990</rights><rights>1991 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c387t-b7c5d00e8c365db71450d99a283df5d9a37103534aadaa830186f045537082733</citedby><cites>FETCH-LOGICAL-c387t-b7c5d00e8c365db71450d99a283df5d9a37103534aadaa830186f045537082733</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/0009898190902068$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27903,27904,65309</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19421524$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/2167185$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Duley, John A.</creatorcontrib><creatorcontrib>Simmonds, H.Anne</creatorcontrib><creatorcontrib>Hopkinson, David A.</creatorcontrib><creatorcontrib>Levinsky, Roland J.</creatorcontrib><title>Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency</title><title>Clinica chimica acta</title><addtitle>Clin Chim Acta</addtitle><description>A complete deficiency of inosine triphosphate pyrophosphohydrolase (ITPase) has been identified, together with high concentrations (mean 157 μmol/l) of the unusual nucleotide ITP, in the erythrocytes of 3 members of a consanguineous United Kingdom kindred. The defect has been noted previously in North America and Sweden, but even in presumed homozygotes some residual ITPase activity was reported.
Homozygosity for the defect has not been associated previously with any clinical abnormality. In this kindred it was co-existent with adenosine deaminase (ADA) deficient severe combined immunodeficiency. Since the genes for both ITPase and ADA are localised on the same chromosome, segregation analysis of ITPase and ADA activity was undertaken in available kindred members. The results confirmed an autosomal recessive mode of inheritance for ITPase deficiency, but suggested that the co-existence with ADA deficiency was coincidental.</description><subject>Adenosine Deaminase - blood</subject><subject>Adenosine Deaminase - deficiency</subject><subject>Biological and medical sciences</subject><subject>Consanguinity</subject><subject>Errors of metabolism</subject><subject>Erythrocytes - enzymology</subject><subject>Female</subject><subject>Humans</subject><subject>Immunodeficiency</subject><subject>Infant, Newborn</subject><subject>Inosine Triphosphatase</subject><subject>Inosine triphosphate pyrophosphohydrolase deficiency</subject><subject>ITP</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metabolism, Inborn Errors - blood</subject><subject>Metabolism, Inborn Errors - enzymology</subject><subject>Metabolism, Inborn Errors - genetics</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Nucleoside Deaminases - deficiency</subject><subject>Nucleotides - blood</subject><subject>Pedigree</subject><subject>Pyrophosphatases - blood</subject><subject>Pyrophosphatases - deficiency</subject><issn>0009-8981</issn><issn>1873-3492</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1990</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1r3DAQhkVoSbZp_0ECvjS0B7cjS7KkSyCEfgQCvbRnMSuNWbVey5G8Lfvv682ahF56GoZ53pfhYeyCwwcOvP0IALY21vB3Ft5baKCtzQlbcaNFLaRtXrDVE3LGXpXyc14ltPyUnTa81dyoFaO7IZU4UDXlOG5SGTc4UTXuczpuabMPOfVYqArURR9p8PsqDhVWv-IQMoXqT5w2FQZaigLhNg7_Bl6zlx32hd4s85z9-Pzp--3X-v7bl7vbm_vaC6Oneq29CgBkvGhVWGsuFQRrsTEidCpYFJqDUEIiBkQjgJu2A6mU0GAaLcQ5uzr2jjk97KhMbhuLp77HgdKuOG2t1GD5DMoj6HMqJVPnxhy3mPeOgzvYdQd17qDOWXCPdp2ZY5dL_269pfAUWnTO97fLHYvHvss4-Fieu61suGrkzF0fOZpl_I6UXXkURSFm8pMLKf7_kb9BL5cd</recordid><startdate>19900501</startdate><enddate>19900501</enddate><creator>Duley, John A.</creator><creator>Simmonds, H.Anne</creator><creator>Hopkinson, David A.</creator><creator>Levinsky, Roland J.</creator><general>Elsevier B.V</general><general>Elsevier</general><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>19900501</creationdate><title>Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency</title><author>Duley, John A. ; Simmonds, H.Anne ; Hopkinson, David A. ; Levinsky, Roland J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c387t-b7c5d00e8c365db71450d99a283df5d9a37103534aadaa830186f045537082733</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1990</creationdate><topic>Adenosine Deaminase - blood</topic><topic>Adenosine Deaminase - deficiency</topic><topic>Biological and medical sciences</topic><topic>Consanguinity</topic><topic>Errors of metabolism</topic><topic>Erythrocytes - enzymology</topic><topic>Female</topic><topic>Humans</topic><topic>Immunodeficiency</topic><topic>Infant, Newborn</topic><topic>Inosine Triphosphatase</topic><topic>Inosine triphosphate pyrophosphohydrolase deficiency</topic><topic>ITP</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metabolism, Inborn Errors - blood</topic><topic>Metabolism, Inborn Errors - enzymology</topic><topic>Metabolism, Inborn Errors - genetics</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Nucleoside Deaminases - deficiency</topic><topic>Nucleotides - blood</topic><topic>Pedigree</topic><topic>Pyrophosphatases - blood</topic><topic>Pyrophosphatases - deficiency</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Duley, John A.</creatorcontrib><creatorcontrib>Simmonds, H.Anne</creatorcontrib><creatorcontrib>Hopkinson, David A.</creatorcontrib><creatorcontrib>Levinsky, Roland J.</creatorcontrib><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>Clinica chimica acta</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Duley, John A.</au><au>Simmonds, H.Anne</au><au>Hopkinson, David A.</au><au>Levinsky, Roland J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency</atitle><jtitle>Clinica chimica acta</jtitle><addtitle>Clin Chim Acta</addtitle><date>1990-05-01</date><risdate>1990</risdate><volume>188</volume><issue>3</issue><spage>243</spage><epage>252</epage><pages>243-252</pages><issn>0009-8981</issn><eissn>1873-3492</eissn><coden>CCATAR</coden><abstract>A complete deficiency of inosine triphosphate pyrophosphohydrolase (ITPase) has been identified, together with high concentrations (mean 157 μmol/l) of the unusual nucleotide ITP, in the erythrocytes of 3 members of a consanguineous United Kingdom kindred. The defect has been noted previously in North America and Sweden, but even in presumed homozygotes some residual ITPase activity was reported.
Homozygosity for the defect has not been associated previously with any clinical abnormality. In this kindred it was co-existent with adenosine deaminase (ADA) deficient severe combined immunodeficiency. Since the genes for both ITPase and ADA are localised on the same chromosome, segregation analysis of ITPase and ADA activity was undertaken in available kindred members. The results confirmed an autosomal recessive mode of inheritance for ITPase deficiency, but suggested that the co-existence with ADA deficiency was coincidental.</abstract><cop>Shannon</cop><pub>Elsevier B.V</pub><pmid>2167185</pmid><doi>10.1016/0009-8981(90)90206-8</doi><tpages>10</tpages></addata></record> |
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| ispartof | Clinica chimica acta, 1990-05, Vol.188 (3), p.243-252 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adenosine Deaminase - blood Adenosine Deaminase - deficiency Biological and medical sciences Consanguinity Errors of metabolism Erythrocytes - enzymology Female Humans Immunodeficiency Infant, Newborn Inosine Triphosphatase Inosine triphosphate pyrophosphohydrolase deficiency ITP Male Medical sciences Metabolic diseases Metabolism, Inborn Errors - blood Metabolism, Inborn Errors - enzymology Metabolism, Inborn Errors - genetics Miscellaneous hereditary metabolic disorders Nucleoside Deaminases - deficiency Nucleotides - blood Pedigree Pyrophosphatases - blood Pyrophosphatases - deficiency |
| title | Inosine triphosphate pyrophosphohydrolase deficiency in a kindred with adenosine deaminase deficiency |
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