Ontology highlight
ABSTRACT:
SUBMITTER: de Boer L
PROVIDER: S-EPMC3755582 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
de Boer L L Kluijtmans L A J LA Morava E E
JIMD reports 20121229
Although the diagnosis of a primary carnitine deficiency is usually based on a very low level of free and total carnitine (free carnitine: 1-5 μM, normal 20-55 μM) (Longo et al. 2006), we detected a patient via newborn screening with a total carnitine level 67 % of the normal value. At the age of 1 year, after interruption of carnitine supplementation for a 4-week period the carnitine profile was assessed and the free carnitine level had dropped to 10.4 μmol/l (normal: 20-55 μM) and total carnit ...[more]