So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager
Late-onset glutaric aciduria type II (GAII) is a rare but treatable cause of profound proximal myopathy. GAII is caused by defects in intra-mitochondrial acyl-CoA dehydrogenation due to deficiency in one of three molecules: the alpha or beta subunits of the electron transport flavoprotein (ETFA; OMI...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 2006-04, Vol.16 (4), p.269-273 |
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| creator | Beresford, Michael W. Pourfarzam, Morteza Turnbull, Doug M. Davidson, Joyce E. |
| description | Late-onset glutaric aciduria type II (GAII) is a rare but treatable cause of profound proximal myopathy. GAII is caused by defects in intra-mitochondrial acyl-CoA dehydrogenation due to deficiency in one of three molecules: the alpha or beta subunits of the electron transport flavoprotein (ETFA; OMIM 231680, ETFB; OMIM 130410), or ETF-dehydrogenase (ETFDH; OMIM 231675). This case report illustrates that GAII may present in the teenage years and may not be associated with hypoglycaemia. It outlines some important diagnostic conundrums faced in diagnosing and managing juvenile onset myopathies. Mutational analysis from this patient revealed two mutations of the ETF-DH gene: EFTDH-334C>T/His122Tyr and EFTDH-1366C>A/Pro456Thr (OMIM 231675). An outline of this rare but important disease, its clinical characteristics and diagnostic methodology are given. |
| doi_str_mv | 10.1016/j.nmd.2006.01.001 |
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Mutational analysis from this patient revealed two mutations of the ETF-DH gene: EFTDH-334C>T/His122Tyr and EFTDH-1366C>A/Pro456Thr (OMIM 231675). 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Glutaric aciduria type II presenting in a teenager</title><title>Neuromuscular disorders : NMD</title><addtitle>Neuromuscul Disord</addtitle><description>Late-onset glutaric aciduria type II (GAII) is a rare but treatable cause of profound proximal myopathy. GAII is caused by defects in intra-mitochondrial acyl-CoA dehydrogenation due to deficiency in one of three molecules: the alpha or beta subunits of the electron transport flavoprotein (ETFA; OMIM 231680, ETFB; OMIM 130410), or ETF-dehydrogenase (ETFDH; OMIM 231675). This case report illustrates that GAII may present in the teenage years and may not be associated with hypoglycaemia. It outlines some important diagnostic conundrums faced in diagnosing and managing juvenile onset myopathies. Mutational analysis from this patient revealed two mutations of the ETF-DH gene: EFTDH-334C>T/His122Tyr and EFTDH-1366C>A/Pro456Thr (OMIM 231675). An outline of this rare but important disease, its clinical characteristics and diagnostic methodology are given.</description><subject>Acyl-CoA Dehydrogenase - deficiency</subject><subject>Adolescent</subject><subject>Carnitine - analogs & derivatives</subject><subject>Carnitine - blood</subject><subject>DNA Mutational Analysis</subject><subject>Electron-Transferring Flavoproteins - genetics</subject><subject>Female</subject><subject>Glutarates - urine</subject><subject>Glutaric aciduria type II</subject><subject>Humans</subject><subject>Iron-Sulfur Proteins - genetics</subject><subject>Late-onset</subject><subject>Metabolism, Inborn Errors - diagnosis</subject><subject>Metabolism, Inborn Errors - enzymology</subject><subject>Metabolism, Inborn Errors - genetics</subject><subject>Muscular Diseases - blood</subject><subject>Muscular Diseases - etiology</subject><subject>Muscular Diseases - genetics</subject><subject>Myopathy</subject><subject>Oxidoreductases Acting on CH-NH Group Donors - genetics</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2006</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1r3DAQhkVoSbZJfkAvRaeeane0tiWZHEoIbboQ6KHtWYylcaLFHxtJ7mb_fRV2obeehhme94V5GHsvoBQg5OdtOY2uXAPIEkQJIM7YSmhVFetK1m_YCloJhW6lvGDvYtxmoFFSnbMLIZu1qnWzYu7nzN1s0xw-8f0TJk4vaNNw4D7yfZinR7736YmPBz4u0Q4Uv_D7YUkYvOVovVuCR54OO-KbDd8FijQln1N-4vlONOEjhSv2tsch0vVpXrLf377-uvtePPy439zdPhS2akQqBLbQKYSuQgLskbCqHahW67rWXd1byruStlMg1xpQWVmj61vn2k42FVSX7OOxdxfm54ViMqOPloYBJ5qXaKTSTauFzKA4gjbMMQbqzS74EcPBCDCvas3WZLXmVa0BYbK5nPlwKl-6kdy_xMllBm6OAOUX_3gKJlpPkyXnA9lk3Oz_U_8XrTqKTg</recordid><startdate>20060401</startdate><enddate>20060401</enddate><creator>Beresford, Michael W.</creator><creator>Pourfarzam, Morteza</creator><creator>Turnbull, Doug M.</creator><creator>Davidson, Joyce E.</creator><general>Elsevier B.V</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></search><sort><creationdate>20060401</creationdate><title>So doctor, what exactly is wrong with my muscles? 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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Acyl-CoA Dehydrogenase - deficiency Adolescent Carnitine - analogs & derivatives Carnitine - blood DNA Mutational Analysis Electron-Transferring Flavoproteins - genetics Female Glutarates - urine Glutaric aciduria type II Humans Iron-Sulfur Proteins - genetics Late-onset Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - enzymology Metabolism, Inborn Errors - genetics Muscular Diseases - blood Muscular Diseases - etiology Muscular Diseases - genetics Myopathy Oxidoreductases Acting on CH-NH Group Donors - genetics |
| title | So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager |
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