caa a22 4500 467933839 CHVBK 20180406152951.0 cr unu---uuuuu 170328e20061001xx s 000 0 eng 10.1007/s10545-006-0376-y doi (NATIONALLICENCE)springer-10.1007/s10545-006-0376-y Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants [Elektronische Daten] [S. Vijay, A. Patterson, S. Olpin, M. Henderson, S. Clark, C. Day, G. Savill, J. Walter] Summary: Carnitine transporter defect (CTD) is an autosomal recessive disorder characterized by episodes of non-ketotic hypoglycaemia, hyperammonaemia and liver disease, or by the development of cardiomyopathy, both of which occur in infancy and childhood. Blood carnitine concentrations are extremely low. The diagnosis can be confirmed by finding abnormal fat oxidation and carnitine uptake in skin fibroblasts. The condition has not previously been thought to present later in life or to be benign. We report the identification of four women discovered to have CTD as a consequence of finding low carnitine concentrations in the cord blood or newborn samples from their infants. All four mothers had been asymptomatic and none had a cardiomyopathy. SSIEM and Springer, 2006 Vijay S. Willink Biochemical Genetics Unit, Royal Manchester Childrens Hospital, UK aut Patterson A. Department of Clinical Chemistry, St James University Hospital, Leeds, UK aut Olpin S. Neonatal Screening Laboratory, Sheffield Childrens Hospital, Sheffield, UK aut Henderson M. Department of Clinical Chemistry, St James University Hospital, Leeds, UK aut Clark S. Neonatal Screening Laboratory, Sheffield Childrens Hospital, Sheffield, UK aut Day C. Neonatal Unit, Bradford Royal Infirmary, Bradford, UK aut Savill G. Airedale General Hospital, Keighley, UK aut Walter J. Willink Biochemical Genetics Unit, Royal Manchester Childrens Hospital, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 627-630 0141-8955 29:5<627 2006 29 10545 https://doi.org/10.1007/s10545-006-0376-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0376-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Vijay S. Willink Biochemical Genetics Unit, Royal Manchester Childrens Hospital, UK aut NATIONALLICENCE 700 1- Patterson A. Department of Clinical Chemistry, St James University Hospital, Leeds, UK aut NATIONALLICENCE 700 1- Olpin S. Neonatal Screening Laboratory, Sheffield Childrens Hospital, Sheffield, UK aut NATIONALLICENCE 700 1- Henderson M. Department of Clinical Chemistry, St James University Hospital, Leeds, UK aut NATIONALLICENCE 700 1- Clark S. Neonatal Screening Laboratory, Sheffield Childrens Hospital, Sheffield, UK aut NATIONALLICENCE 700 1- Day C. Neonatal Unit, Bradford Royal Infirmary, Bradford, UK aut NATIONALLICENCE 700 1- Savill G. Airedale General Hospital, Keighley, UK aut NATIONALLICENCE 700 1- Walter J. Willink Biochemical Genetics Unit, Royal Manchester Childrens Hospital, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/5(2006-10-01), 627-630 0141-8955 29:5<627 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer