… rule out an inborn error of cobalamin metabolism. This study … mut patient with previously
identified mutations, a cblJ patient … a large proportion of mutations in MUT are detected only in a …

… CblJ disease has recently been described in two unrelated … Novel inborn error of vitamin
B12 metabolism caused by … phenotype, clinical followup and novel mutations in TTPA gene in …

… of these IEMs are detected with straightforward metabolic/… , for example tremor with the
administration of vitamin B12. … of patients tested using a personalized exome sequencing …

… exome sequencing was performed, leading to the detection … Inborn errors of cobalamin
metabolism can present with a … and cblJ) and cytosolic cobalamin conversion (cblC and cblD). …

… In this study, we performed exome sequencing in a family … , is an inborn error of intracellular
cobalamin metabolism. The … metabolism have been identified, designated cblA-cblG, cblJ, …

… intracellular metabolism defect (CblC/CblD/CblF/CblJ or … revealed no mutations, while
sequencing of MMACHC gene … Inborn errors of metabolism must always be considered as a …

… homocystinuria cblJ type [ABCD4], one with congenital sucrase-… genetic disorder, including
inborn errors of metabolism, we … for exome sequencing, which showed molecular diagnostic …

… Various inborn errors of metabolism showed an association with … Atypical PKAN is
characterized by later onset (age >10 years), … deficiencies, such as serum vitamin B12 deficiency …

… 2010, next-generation sequencing was also used for mutation … The novel mutations identified
in this study are marked in red. … We detected 14 previously reported mutations and 4 novel …

… The biochemistry and metabolism of cobalamin is complex, and … a diagnosis of vitamin B12
deficiency (Fig. 2). One study of 406 patients with known vitamin B12 deficiency showed that …