, GeneReviews(R) [Internet], Uni- versity of Washington, Seattle, Seattle (WA), 1993-2015.Pagon R. A., Adam M. P., Ardinger H. H., et al., editors. Systemic Primary Carnitine Deficiency . Seattle, DC, USA: GeneReviews, University of Washington; 1993–2014....
Primary systemic carnitine deficiency is caused by mutations in the SLC22A5 gene, encoding the high-affinity, sodium ion-dependent carnitine organic cation transporter OCTN2 (Table 60.1).doi:10.1007/978-3-319-07500-6_60Corrado AngeliniA.W. El-Hattab, Systemic primary carnitine deficiency, 2012 ...
Primary CoQ10 deficiency resulting from COQ gene mutations is associated with a heterogeneous spectrum of clinical phenotypes; however, from the data presented above (summarized in Table 1), the following generalisations may be made: (i) the disorder typically has a neonatal, infantile, or childhoo...