… Furthermore, we examined a series of ABCD4 missense mutations to understand how
these alterations … Mutations in ABCD4 cause a new inborn error of vitamin B 12 metabolism. …

… recessive hereditary vitamin B 12 malabsorption, mutations in … Mutations in ABCD4 and
LMBDR1 genes cause disease … individuals with inborn errors of cobalamin metabolism revealed …

… Inborn errors affecting cobalamin uptake or metabolism are … of two lysosomal membrane
proteins, ABCD4 and LMBD1. … a metabolic enzyme instead of mutations in metabolic genes …

… Inherited disorders of B 12 metabolism produce a broad spectrum of manifestations, with …
proven diagnosis of an inherited disorder of vitamin B 12 metabolism. Gene clusters and age …

… involving several proteins, LMBRD1, ABCD4, MMACHC, MMADHC. Mutations in these
genes are associated with inborn errors of cobalamin metabolism. The two target enzymes are …

… Inborn errors of cellular cobalamin metabolism result in … in LMBRD1 on chromosome 6q13
(cblF) and ABCD4 on chromosome … Both forms of the disorder are caused by mutations in the …

… of the ABCD mutants. In the proteoliposome with chimeric … Cobalamin (vitamin B 12 ) cannot
be synthesized by the human … in ABCD4 lead to inborn errors in cobalamin metabolism, with …

… D member 4 (ABCD4, encoded by ABCD4). Disturbed function … the most frequent inborn
error of Cbl metabolism. Much akin … most prevalent disease causing missense mutation. We 55 …

… of the inborn errors of Cbl metabolism requires either identification of causal mutations or …
Mutations in ABCD4, which encodes an ATP-binding cassette transporter, have been identified …

… carry mutations associated with defects in VitB12 metabolism … proteins encoded by the
LMBRD1 and ABCD4 genes [22]. In the … and inborn errors linked to vitamin uptake/metabolism but …