caa a22 4500 469045051 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920901xx s 000 0 eng 10.1007/BF01800021 doi (NATIONALLICENCE)springer-10.1007/BF01800021 Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency [Elektronische Daten] [C. Stanley, F. Sunaryo, D. Hale, J. Bonnefont, F. Demaugre, J. Saudubray] Summary: In a boy with a defect in fatty acid oxidation due to the hepatic form of carnitine palmitoyltransferase-1 deficiency, plasma carnitine concentrations were found to be twice normal. The elevation in plasma carnitine levels was accompanied by an unusually high renal threshold for free carnitine, suggesting a secondary increase in carnitine transport. Similar to other fatty acid oxidation disorders involving the carnitine cycle, urinary dicarboxylic acids were not abnormally elevated during illnesses. The combination of elevated plasma carnitine levels and absence of dicarboxylic aciduria may help to distinguish the hepatic form of carnitine palmitoyltransferase-1 deficiency from other defects in fatty acid oxidation. SSIEM and Kluwer Academic Publishers, 1992 Stanley C. Division of Endocrinology/Diabetes, The Children's Hospital of Philadelphia, University of Pennysylvania School of Medicine, 34th Street and Civic Center Boulevard, 19104, Philadelphia, PA, USA aut Sunaryo F. Pediatric Department, Newark Beth Israel Medical Center, Newark, New Jersey, USA aut Hale D. Division of Endocrinology/Diabetes, The Children's Hospital of Philadelphia, University of Pennysylvania School of Medicine, 34th Street and Civic Center Boulevard, 19104, Philadelphia, PA, USA aut Bonnefont J. Clinique et Unité de Recherche de Génétique Médicale, Hôpital des Enfants Malades, Paris, France aut Demaugre F. Clinique et Unité de Recherche de Génétique Médicale, Hôpital des Enfants Malades, Paris, France aut Saudubray J. Clinique et Unité de Recherche de Génétique Médicale, Hôpital des Enfants Malades, Paris, France aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 785-789 0141-8955 15:5<785 1992 15 10545 https://doi.org/10.1007/BF01800021 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800021 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Stanley C. Division of Endocrinology/Diabetes, The Children's Hospital of Philadelphia, University of Pennysylvania School of Medicine, 34th Street and Civic Center Boulevard, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Sunaryo F. Pediatric Department, Newark Beth Israel Medical Center, Newark, New Jersey, USA aut NATIONALLICENCE 700 1- Hale D. Division of Endocrinology/Diabetes, The Children's Hospital of Philadelphia, University of Pennysylvania School of Medicine, 34th Street and Civic Center Boulevard, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Bonnefont J. Clinique et Unité de Recherche de Génétique Médicale, Hôpital des Enfants Malades, Paris, France aut NATIONALLICENCE 700 1- Demaugre F. Clinique et Unité de Recherche de Génétique Médicale, Hôpital des Enfants Malades, Paris, France aut NATIONALLICENCE 700 1- Saudubray J. Clinique et Unité de Recherche de Génétique Médicale, Hôpital des Enfants Malades, Paris, France aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/5(1992-09-01), 785-789 0141-8955 15:5<785 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer