Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Figure 1

(a) The boy, before carnitine treatment with significant mask face and dysmorphic findings (protruding large ears, hypertelorism, epicanthal folds, swollen eyelids, narrow columella, and small nose). (b) The boy, 2 months after carnitine treatment.

(a)

(b)