… these patients, urinary organic acid profiling reveals elevated … The incidence of the inborn
errors of organic acid metabolism … transporter; finally, cblJ is due to mutations in the ABCD4 …

… Defects in lysosomal export of free Cbl are found in cblF and cblJ patient … next generation
sequencing as efficient as HRMA for diagnosing inborn error of cobalamin metabolism…

… Inborn errors of metabolism (metabolic disorders) are relatively … profiling and whole exome
or genome sequencing (1, 12). … Neuroimaging can reveal delayed myelination and brain …

… Lateonset presentations of cblC and other inborn errors of … novel mutation in LMBRD1
causes the cblF defect of vitamin … Exome sequencing identifies ACSF3 as a cause of combined …

… and hypomyelination are often detected on brain magnetic … nucleosides, any disruption in
metabolism and trafficking of nucleosides … with atypical milder variants often escape diagnosis. …

… 90% of mutations in Ashkenazi Jews can be detected by … relatively uniform, but atypical or
late-onset forms of the disease … Fabry disease is an X-linked inborn error of glycosphingolipid …

… of clinical suspicion of inborn error of metabolism. Ten percent … the diagnosis of cobalamin
defect as her vitamin B12 levels … ) and urine analysis also showed higher peak of glycine with …

… This study reveals that endothelial cells recycle uncommitted … inborn errors of Cbl metabolism
(53) and cellular vitamin … via transporter proteins CblF and CblJ. Once in the cytosol, the …

… metabolism is at the intersection of two metabolic pathways: remethylation and transsulfuration.
In remethylation, the primary methyl donor for the vitamin B 12 … vitamin B 12 , and vitamin …

… as a metabolic neurodegenerative disorder, phenotypic … an importer, with substrate (Vitamin
B12/Cobalamin) suggested to … assessments, our data reveal the conformational landscape …