caa a22 4500 469043814 CHVBK 20180323132818.0 cr unu---uuuuu 170328e19920101xx s 000 0 eng 10.1007/BF01800347 doi (NATIONALLICENCE)springer-10.1007/BF01800347 Zellweger syndrome in a preterm, small for gestational age infant [Elektronische Daten] [J. Samsom, C. Jakobs, J. van de Klei-van Moorsel, L. Smit, R. Schutgens, R. Wanders] Summary: A preterm (gestational age 34 weeks), small for gestational age infant (birth weight <P 2,3) is described. Because of unexplained slightly disturbed liver function tests at age 2 months, extensive metabolic examinations were performed. Elevated blood levels of very long-chain fatty acids, pipecolic acid and abnormal levels of bile acid intermediates were detected, suggesting a peroxisomal disorder. The plasmalogen content of erythrocytes was decreased. Morphologically distinct peroxisomes were absent in the liver. In fibroblasts an accumulation of very long-chain fatty acids, decreased activity of acyl-CoA: dihydroxyacetone phosphate acyltransferase and impairedde novo biosynthesis of plasmalogens was found. In summary, a mild variant of the classical cerebro-hepato-renal syndrome of Zellweger was found without the characteristic clinical facial signs. SSIEM and Kluwer Academic Publishers, 1992 Samsom J. Department of Pediatrics, Free University Hospital, De Boelaan 1117, 1081 HV, Amsterdam, The Netherlands aut Jakobs C. Department of Pediatrics, Free University Hospital, De Boelaan 1117, 1081 HV, Amsterdam, The Netherlands aut van de Klei-van Moorsel J. Department of Pediatrics, Free University Hospital, De Boelaan 1117, 1081 HV, Amsterdam, The Netherlands aut Smit L. Department of Pediatrics, Free University Hospital, De Boelaan 1117, 1081 HV, Amsterdam, The Netherlands aut Schutgens R. Department of Pediatrics, University Hospital, Amsterdam, The Netherlands aut Wanders R. Department of Pediatrics, University Hospital, Amsterdam, The Netherlands aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 75-83 0141-8955 15:1<75 1992 15 10545 https://doi.org/10.1007/BF01800347 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800347 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Samsom J. Department of Pediatrics, Free University Hospital, De Boelaan 1117, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Jakobs C. Department of Pediatrics, Free University Hospital, De Boelaan 1117, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- van de Klei-van Moorsel J. Department of Pediatrics, Free University Hospital, De Boelaan 1117, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Smit L. Department of Pediatrics, Free University Hospital, De Boelaan 1117, 1081 HV, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Schutgens R. Department of Pediatrics, University Hospital, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Wanders R. Department of Pediatrics, University Hospital, Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/1(1992-01-01), 75-83 0141-8955 15:1<75 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer