Myoadenylate deaminase deficiency with severe rhabdomyolysis
A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19,000 units/l). The acute rhabdomyolysis and the precedi...
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| Veröffentlicht in: | European journal of pediatrics 1993-06, Vol.152 (6), p.513-515 |
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| container_title | European journal of pediatrics |
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| creator | BAUMEISTER, F. A. M GROSS, M WAGNER, D. R PONGRATZ, D EIFE, R |
| description | A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19,000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis. |
| doi_str_mv | 10.1007/BF01955062 |
| format | Article |
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Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.</description><identifier>ISSN: 0340-6199</identifier><identifier>EISSN: 1432-1076</identifier><identifier>DOI: 10.1007/BF01955062</identifier><identifier>PMID: 8335021</identifier><identifier>CODEN: EJPEDT</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Adolescent ; Ammonia - blood ; AMP Deaminase - deficiency ; AMP Deaminase - genetics ; Biological and medical sciences ; DNA Mutational Analysis ; Errors of metabolism ; Exercise Test ; Female ; Homozygote ; Humans ; Medical sciences ; Metabolic diseases ; Miscellaneous hereditary metabolic disorders ; Polymerase Chain Reaction ; Rhabdomyolysis - genetics ; Rhabdomyolysis - metabolism ; Severity of Illness Index</subject><ispartof>European journal of pediatrics, 1993-06, Vol.152 (6), p.513-515</ispartof><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c311t-e112811ec3cddcb8e579e9ee826ab314132526573a87ae0e2ca3b4f4eb6907d23</citedby><cites>FETCH-LOGICAL-c311t-e112811ec3cddcb8e579e9ee826ab314132526573a87ae0e2ca3b4f4eb6907d23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4770174$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8335021$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>BAUMEISTER, F. A. M</creatorcontrib><creatorcontrib>GROSS, M</creatorcontrib><creatorcontrib>WAGNER, D. R</creatorcontrib><creatorcontrib>PONGRATZ, D</creatorcontrib><creatorcontrib>EIFE, R</creatorcontrib><title>Myoadenylate deaminase deficiency with severe rhabdomyolysis</title><title>European journal of pediatrics</title><addtitle>Eur J Pediatr</addtitle><description>A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19,000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.</description><subject>Adolescent</subject><subject>Ammonia - blood</subject><subject>AMP Deaminase - deficiency</subject><subject>AMP Deaminase - genetics</subject><subject>Biological and medical sciences</subject><subject>DNA Mutational Analysis</subject><subject>Errors of metabolism</subject><subject>Exercise Test</subject><subject>Female</subject><subject>Homozygote</subject><subject>Humans</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Polymerase Chain Reaction</subject><subject>Rhabdomyolysis - genetics</subject><subject>Rhabdomyolysis - metabolism</subject><subject>Severity of Illness Index</subject><issn>0340-6199</issn><issn>1432-1076</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpF0M1Lw0AQBfBFlFqrF-9CDuJBiO7sZrMJeKnFqlDxoucw2UzoSj7qbqrkvzeloZ5m4P14h8fYJfA74FzfPy45pErxWByxKURShMB1fMymXEY8jCFNT9mZ9198wCkkEzZJpFRcwJQ9vPUtFtT0FXYUFIS1bdDvvtIaS43pg1_brQNPP-QocGvMi7bu26r31p-zkxIrTxfjnbHP5dPH4iVcvT-_Luar0EiALiQAkQCQkaYoTJ6Q0imlRImIMZcQgRRKxEpLTDQSJ2FQ5lEZUR6nXBdCztjNvnfj2u8t-S6rrTdUVdhQu_WZVokSEtQAb_fQuNZ7R2W2cbZG12fAs91U2f9UA74aW7d5TcWBjtsM-fWYozdYlQ4bY_2BRVpz0JH8AxHGb-E</recordid><startdate>19930601</startdate><enddate>19930601</enddate><creator>BAUMEISTER, F. 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A. M</creatorcontrib><creatorcontrib>GROSS, M</creatorcontrib><creatorcontrib>WAGNER, D. R</creatorcontrib><creatorcontrib>PONGRATZ, D</creatorcontrib><creatorcontrib>EIFE, R</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>European journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>BAUMEISTER, F. A. M</au><au>GROSS, M</au><au>WAGNER, D. R</au><au>PONGRATZ, D</au><au>EIFE, R</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Myoadenylate deaminase deficiency with severe rhabdomyolysis</atitle><jtitle>European journal of pediatrics</jtitle><addtitle>Eur J Pediatr</addtitle><date>1993-06-01</date><risdate>1993</risdate><volume>152</volume><issue>6</issue><spage>513</spage><epage>515</epage><pages>513-515</pages><issn>0340-6199</issn><eissn>1432-1076</eissn><coden>EJPEDT</coden><abstract>A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19,000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.</abstract><cop>Heidelberg</cop><cop>Berlin</cop><pub>Springer</pub><pmid>8335021</pmid><doi>10.1007/BF01955062</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0340-6199 |
| ispartof | European journal of pediatrics, 1993-06, Vol.152 (6), p.513-515 |
| issn | 0340-6199 1432-1076 |
| language | eng |
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| source | MEDLINE; Springer Nature - Complete Springer Journals |
| subjects | Adolescent Ammonia - blood AMP Deaminase - deficiency AMP Deaminase - genetics Biological and medical sciences DNA Mutational Analysis Errors of metabolism Exercise Test Female Homozygote Humans Medical sciences Metabolic diseases Miscellaneous hereditary metabolic disorders Polymerase Chain Reaction Rhabdomyolysis - genetics Rhabdomyolysis - metabolism Severity of Illness Index |
| title | Myoadenylate deaminase deficiency with severe rhabdomyolysis |
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