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We report on a 14\u2010year\u2010old Asian\u2010American male with PA who presented with isolated cardiomyopathy without any documented episodes of metabolic acidosis or evidence of any neurocognitive deficits. On routine metabolic screening, the patient was found to have urine organic acids suggestive of PA. Biochemical and genetic characterization confirmed a PCC deficiency with two novel mutations in <jats:italic>PCCB<\/jats:italic>: IVS7\u2009+\u20092 T\u2009&gt;\u2009G (c.763\u2009+\u20092 T\u2009&gt;\u2009G) and p.R410Q (c.1229 G\u2009&gt;\u2009A). Residual enzyme activity likely explains our patient's mild phenotype. Splicing mutations tend to result in a milder phenotype as these mutations may still produce small amounts of normal enzyme. In addition, the similar p.R410W mutation has been shown to have partial residual activity. Moreover, this case illustrates that a thorough metabolic evaluation should be performed in both paediatric and adult patients with cardiomyopathy. Such an evaluation has important implications for clinical management and genetic counselling.<\/jats:p>","DOI":"10.1007\/s10545-009-1084-1","type":"journal-article","created":{"date-parts":[[2009,2,24]],"date-time":"2009-02-24T01:39:47Z","timestamp":1235439587000},"page":"97-101","source":"Crossref","is-referenced-by-count":33,"title":["Unusual presentation of propionic acidaemia as isolated cardiomyopathy"],"prefix":"10.1002","volume":"32","author":[{"given":"T. M.","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics Columbia University Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. J.","family":"Addonizio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Medical Center New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. A.","family":"Barshop","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine University of California, San Diego La Jolla California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Columbia University Medical Center New York New York USA"},{"name":"1150 St. Nicholas Avenue, Room 620, Russ Berrie Medical Science Pavilion New York NY 10032 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,2,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2006.00569.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.11.043"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1147-1"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30090"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.08.001"},{"key":"e_1_2_5_7_1","first-page":"2165","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Fenton WA","year":"2001"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(80)90557-3"},{"key":"e_1_2_5_9_1","first-page":"51","article-title":"Mutations participating in interallelic complementation in propionic acidemia","volume":"55","author":"Gravel RA","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-005-1129-7"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)86263-4"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197713"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.21.8049"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.04.004"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01955907"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.9.1143"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(02)00197-X"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050765"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200442"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(03)00039-5"},{"issue":"1","key":"e_1_2_5_21_1","first-page":"35","article-title":"Cardiomyopathy as the presenting feature in a 15\u2010year\u2010old boy with propionic acidemia","volume":"30","author":"Rhead WJ","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050593"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992280404300908"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.39.10.1343"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710282"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<275::AID-HUMU1>3.0.CO;2-N"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.01.003"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0761-z"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1084-1","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-1084-1","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1084-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T03:17:59Z","timestamp":1694747879000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1084-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,24]]},"references-count":27,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1007\/s10545-009-1084-1"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1084-1","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,24]]}}}