{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:13:23Z","timestamp":1771002803566,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1988,10,5]],"date-time":"1988-10-05T00:00:00Z","timestamp":592012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1990,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A small\u2010for\u2010date infant presented at birth with severe non\u2010immune hydrops, cardiac failure, metabolic acidosis and hypoglycaemia. Ultrasonography disclosed a cardiomyopathy. Initial therapy consisting of artificial ventilation, inotropes and diuretics resulted in partial disappearance of oedema without significant improvement in cardiac function. Episodes of hypoglycaemia recurred despite continuous glucose influsions.<\/jats:p><jats:p>Total serum carnitine from cord blood was 1.65 nmoles\/ml and was undetectable on day 20. Oral<jats:sc>dl<\/jats:sc>\u2010carnitine supplements resulted in normoglycaemia, dramatic improvement in cardiac function and restoration of serum carnitine levels to normal values. The infant was thereafter maintained on carnitine therapy. Follow\u2010up over 1 year showed moderate growth retardation and normal developmental milestones.<\/jats:p><jats:p>In order to account for such a severe neonatal presentation of carnitine deficiency, a combination of defective pre\u2010 and postnatal carnitine supply with an inborn error of carnitine handling is considered. The present case illustrates the need for evaluation of carnitine status in fetuses and neonates presenting with hydrops associated with cardiac failure.<\/jats:p>","DOI":"10.1007\/bf01799334","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T13:55:43Z","timestamp":1119362143000},"page":"69-75","source":"Crossref","is-referenced-by-count":24,"title":["Carnitine deficiency with cardiomyopathy presenting as neonatal hydrops: Successful response to carnitine therapy"],"prefix":"10.1002","volume":"13","author":[{"given":"P.","family":"Steenhout","sequence":"first","affiliation":[{"name":"Department of Pediatrics University Hospitals St\u2010Pierre and Brugmann Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Elmer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospitals St\u2010Pierre and Brugmann Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Clercx","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospitals St\u2010Pierre and Brugmann Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Blum","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospitals St\u2010Pierre and Brugmann Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Gnat","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry University Hospitals St\u2010Pierre and Brugmann Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"van Erum","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry University Hospitals St\u2010Pierre and Brugmann Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Vertongen","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry University Hospitals St\u2010Pierre and Brugmann Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Vamos","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospitals St\u2010Pierre and Brugmann Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1988,10,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/44.3.379"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198012113032403"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80460-6"},{"key":"e_1_2_1_5_1","first-page":"87","article-title":"Evaluation \u00e9chographique des anasarques foeto\u2010placentaires non\u2010immunitaires","volume":"15","author":"El Khazen N.","year":"1985","journal-title":"J. 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