{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T17:46:08Z","timestamp":1698687968575},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,2,18]],"date-time":"2011-02-18T00:00:00Z","timestamp":1297987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carnitine deficiency or coenzyme Q10 (CoQ10) deficiency may present with hypotonia, poor growth, easy fatigability, and apnea. This constellation of findings can also be seen in individuals with Prader\u2013Willi syndrome (PWS). Animal studies indicate that increased fat mass due to obesity negatively correlates with both carnitine and CoQ10 levels in skeletal muscle. Increased body fat and obesity are characteristic of individuals with PWS. Currently, there is no documentation of serum carnitine levels, and only one study investigating plasma CoQ10 levels, in individuals with PWS. Fasting serum carnitine and plasma CoQ10 levels were measured in 40 individuals with molecularly confirmed PWS (ages 1\u201327 years; 19 F\/21 M), 11 individuals with early\u2010onset morbid obesity of unknown etiology (ages 3\u201313 years; 5 F\/6 M), and 35 control siblings from both groups (ages 1\u201324 years; 19 F\/16 M). There were no significant differences among the three groups in either total carnitine, free carnitine, or CoQ10 levels. However, individuals with PWS had higher serum levels of carnitine esters (<jats:italic>P<\/jats:italic>\u2009=\u20090.013) and higher ester\u2010to\u2010free carnitine ratios (<jats:italic>P<\/jats:italic>\u2009=\u20090.0096) than controls suggesting a possible underlying impairment of peripheral carnitine utilization and mitochondrial energy metabolism in some individuals with PWS. Serum sampling identified no significant differences in total and free carnitine or CoQ10 levels between individuals with PWS, obese individuals, and sibling control groups. Muscle biopsy or measurement in leukocytes or cultured skin fibroblasts could be a better method to identify abnormalities in carnitine and CoQ10 metabolism in individuals with PWS than peripheral blood sampling. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33887","type":"journal-article","created":{"date-parts":[[2011,2,18]],"date-time":"2011-02-18T20:10:49Z","timestamp":1298059849000},"page":"569-573","source":"Crossref","is-referenced-by-count":8,"title":["Carnitine and coenzyme Q10 levels in individuals with Prader\u2013Willi syndrome"],"prefix":"10.1002","volume":"155","author":[{"given":"Jennifer L.","family":"Miller","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christy H.","family":"Lynn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Shuster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel J.","family":"Driscoll","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,2,18]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"151","volume-title":"Mitochondrial Ubiquinone (Coenzyme Q10): Biochemical, Functional, Medical and Therapeutic Aspects in Human Health and Disease","author":"Battino M","year":"2001"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399405009531"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10055"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003950050167"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.165"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2005.054643"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32137"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tem.2003.11.003"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1201\/9781420067637"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mco.0000171123.60665.16"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.032888"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajhb.1117"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2006.125799"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33887","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33887","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T03:07:36Z","timestamp":1696993656000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33887"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,18]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,3]]}},"alternative-id":["10.1002\/ajmg.a.33887"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33887","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,18]]}}}