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Cranial ultrasound revealed cystic dysplasia with several foci of hyperechogenicity within the right basal ganglia. Free carnitine was markedly decreased in the urine and plasma with a pronounced elevation of plasma long-chain acylcarnitines. Fibroblast carnitine palmitoyltransferase II activity was reduced to 26% and 38% in the father and mother, respectively. The infant expired on day 5 of life from malignant ventricular tachy-arrhythmias. Diffuse lipid accumulation was evident at autopsy, including in the liver, heart, kidney, adrenal cortex, skeletal muscle, and lungs. This new case of infantile CPT-1I deficiency illustrates the severity of the early onset form of CPT-II deficiency.<\/jats:p>","DOI":"10.1177\/000992289903800102","type":"journal-article","created":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T21:21:41Z","timestamp":1182460901000},"page":"13-20","source":"Crossref","is-referenced-by-count":28,"title":["Fatal Carnitine Palmitoyltransferase II Deficiency in a Newborn: New Phenotpic Features"],"prefix":"10.1177","volume":"38","author":[{"given":"Maria R.","family":"Pierce","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hayward Genetics Center"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Pridjian","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics, Obstetrics and Gynecology, Human Genetics Program, Hayward Genetics Center; Tulane Medical School, Department of Ob\/Gyn, Division of Maternal and Fetal Medicine SL11, 1430 Tulane Avenue, New Orleans, LA 70112"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Morrison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur S.","family":"Pickoff","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hayward Genetics Center"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[1999,1,1]]},"reference":[{"key":"atypb1","first-page":"1501","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Roe CR","year":"1995","edition":"7"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112820"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1016\/0305-0491(73)90359-3"},{"key":"atypb4","first-page":"H9","volume":"256","author":"Ascuitto RJ","year":"1989","journal-title":"Am J Physiol"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.49.070180.002143"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197511202932107"},{"key":"atypb7","first-page":"889","volume-title":"The Metabolic Basis of Inherited Disease","author":"Roe CR","year":"1989"},{"key":"atypb8","doi-asserted-by":"crossref","first-page":"115A","DOI":"10.1203\/00006450-198902000-00001","volume":"25","author":"Hug G","year":"1989","journal-title":"Pediatr Res"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(09)90019-1"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(95)70073-0"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.18.8429"},{"key":"atypb12","first-page":"309","volume-title":"New Developments in Fatty Acid Oxidation","author":"Land JM","year":"1992"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710434"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70281-0"},{"key":"atypb15","first-page":"73a","volume":"29","author":"Zinn AB","year":"1991","journal-title":"Pediatr Res"},{"key":"atypb16","first-page":"109A","volume":"49","author":"With DR","year":"1991","journal-title":"Am J Hum Gene"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115090"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)36985-6"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(86)23031-1"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(91)90150-6"},{"key":"atypb21","unstructured":"21. 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