Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria
Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neo...
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| Veröffentlicht in: | Molecular genetics and metabolism 2012-12, Vol.107 (4), p.756-759 |
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| container_title | Molecular genetics and metabolism |
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| creator | Prasad, Chitra Salvadori, Marina I. Rupar, C.A. |
| description | Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neonatal hydrops in the first patient to severe failure to thrive, hepatosplenomegaly, recurrent febrile episodes and lymphadenopathy in the second. Both infants excreted relatively low amounts of mevalonic acid intermittently. |
| doi_str_mv | 10.1016/j.ymgme.2012.10.019 |
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We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neonatal hydrops in the first patient to severe failure to thrive, hepatosplenomegaly, recurrent febrile episodes and lymphadenopathy in the second. Both infants excreted relatively low amounts of mevalonic acid intermittently.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1016/j.ymgme.2012.10.019</identifier><identifier>PMID: 23146290</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>aciduria ; Autosomal recessive ; Edema ; Failure to thrive ; Fatal Outcome ; Hepatosplenomegaly ; Heterozygote ; Humans ; Hydrops ; Infant ; Infant, Newborn ; Infants ; Lymphadenopathy ; Male ; Mevalonate kinase ; Mevalonate kinase deficiency ; Mevalonate Kinase Deficiency - diagnosis ; Mevalonate Kinase Deficiency - genetics ; Mevalonate Kinase Deficiency - metabolism ; mevalonic acid ; Mevalonic Acid - metabolism ; Mutation ; Neonates ; Phenotype</subject><ispartof>Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.756-759</ispartof><rights>2012</rights><rights>Crown Copyright © 2012. Published by Elsevier Inc. 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We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neonatal hydrops in the first patient to severe failure to thrive, hepatosplenomegaly, recurrent febrile episodes and lymphadenopathy in the second. Both infants excreted relatively low amounts of mevalonic acid intermittently.</description><subject>aciduria</subject><subject>Autosomal recessive</subject><subject>Edema</subject><subject>Failure to thrive</subject><subject>Fatal Outcome</subject><subject>Hepatosplenomegaly</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Hydrops</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infants</subject><subject>Lymphadenopathy</subject><subject>Male</subject><subject>Mevalonate kinase</subject><subject>Mevalonate kinase deficiency</subject><subject>Mevalonate Kinase Deficiency - diagnosis</subject><subject>Mevalonate Kinase Deficiency - genetics</subject><subject>Mevalonate Kinase Deficiency - metabolism</subject><subject>mevalonic acid</subject><subject>Mevalonic Acid - metabolism</subject><subject>Mutation</subject><subject>Neonates</subject><subject>Phenotype</subject><issn>1096-7192</issn><issn>1096-7206</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkctKAzEUhoMotl6eQJBZumnNfZqFCyneoOBC3bgJmcwZmzo3k5lK397Uti7VVQ6H78-B_0PojOAxwUReLsar6q2CMcWExs0YE7WHhgQrOUoplvu7mSg6QEchLDAmRCh-iAaUES6pwkP0-gRL8JC0c6ibbtU6m4QWbOf7KmmKpIKlKZvadJC8u9oESHIonHVQ21Xy6bp5UrnaVabckTFvrMt778wJOihMGeB0-x6jl9ub5-n9aPZ49zC9no0sp6IbUVPAROSU8YxQmaaGp1woHDccWCGzdIILlQkuBDAKIleMyAJynkmwE2wMO0YXm39b33z0EDpduWChLE0NTR80oSlNGU4Z_R9KBWbyb5RMpGLRA48o26DWNyF4KHTrYyd-pQnWa1V6ob9V6bWq9TKqiqnz7YE-qyD_yezcROBqA0Asb-nA6_BdPOTOR0M6b9yvB74ADXul3A</recordid><startdate>201212</startdate><enddate>201212</enddate><creator>Prasad, Chitra</creator><creator>Salvadori, Marina I.</creator><creator>Rupar, C.A.</creator><general>Elsevier Inc</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>7X8</scope><scope>7TG</scope><scope>8FD</scope><scope>FR3</scope><scope>KL.</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201212</creationdate><title>Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria</title><author>Prasad, Chitra ; Salvadori, Marina I. ; Rupar, C.A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c425t-2afe85d234b12677a4745905d24e3f6b780f9b5455e32e5d9316fed4b6ec80aa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>aciduria</topic><topic>Autosomal recessive</topic><topic>Edema</topic><topic>Failure to thrive</topic><topic>Fatal Outcome</topic><topic>Hepatosplenomegaly</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Hydrops</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infants</topic><topic>Lymphadenopathy</topic><topic>Male</topic><topic>Mevalonate kinase</topic><topic>Mevalonate kinase deficiency</topic><topic>Mevalonate Kinase Deficiency - diagnosis</topic><topic>Mevalonate Kinase Deficiency - genetics</topic><topic>Mevalonate Kinase Deficiency - metabolism</topic><topic>mevalonic acid</topic><topic>Mevalonic Acid - metabolism</topic><topic>Mutation</topic><topic>Neonates</topic><topic>Phenotype</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Prasad, Chitra</creatorcontrib><creatorcontrib>Salvadori, Marina I.</creatorcontrib><creatorcontrib>Rupar, C.A.</creatorcontrib><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><collection>Meteorological & Geoastrophysical Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Meteorological & Geoastrophysical Abstracts - Academic</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Molecular genetics and metabolism</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Prasad, Chitra</au><au>Salvadori, Marina I.</au><au>Rupar, C.A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria</atitle><jtitle>Molecular genetics and metabolism</jtitle><addtitle>Mol Genet Metab</addtitle><date>2012-12</date><risdate>2012</risdate><volume>107</volume><issue>4</issue><spage>756</spage><epage>759</epage><pages>756-759</pages><issn>1096-7192</issn><eissn>1096-7206</eissn><abstract>Mevalonate kinase deficiency is a rare autosomal recessively inherited organic aciduria with a complex multi-systemic phenotype. We describe two deceased patients with clinically severe mevalonate kinase (MK) deficiency confirmed by MK mutation analysis. The phenotype in our patients ranged from neonatal hydrops in the first patient to severe failure to thrive, hepatosplenomegaly, recurrent febrile episodes and lymphadenopathy in the second. Both infants excreted relatively low amounts of mevalonic acid intermittently.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>23146290</pmid><doi>10.1016/j.ymgme.2012.10.019</doi><tpages>4</tpages></addata></record> |
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| ispartof | Molecular genetics and metabolism, 2012-12, Vol.107 (4), p.756-759 |
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| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | aciduria Autosomal recessive Edema Failure to thrive Fatal Outcome Hepatosplenomegaly Heterozygote Humans Hydrops Infant Infant, Newborn Infants Lymphadenopathy Male Mevalonate kinase Mevalonate kinase deficiency Mevalonate Kinase Deficiency - diagnosis Mevalonate Kinase Deficiency - genetics Mevalonate Kinase Deficiency - metabolism mevalonic acid Mevalonic Acid - metabolism Mutation Neonates Phenotype |
| title | Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria |
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