The cobalamin F (cblF) defect is caused by disturbed lysosomal release of cobalamin
(vitamin B12) into the cytoplasm caused by mutations in the LMBRD1 gene. We present the …

Cobalamin F (cblF) disorder, caused by homozygous or compound heterozygous mutations
in the LMBRD1 gene, is a recognised cause of developmental delay, pancytopaenia and …

A neonate, who was found to have an elevated C3/C2 ratio and minimally elevated
propionylcarnitine on newborn screening, was subsequently identified as having the rare …

Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism
resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia …

The cblF disorder, characterized by accumulation of internalized cobalamin in the lysosome,
is caused by mutations in the LMBRD1 gene which encodes an integral lysosomal …

Cobalamin D deficiency (cblD) is one of the least common cobalamin metabolism disorders.
It may result in isolated homocystinuria, isolated methylmalonic aciduria, or combined …

Here we report on a girl who presented with failure to thrive, developmental delay, minor
facial anomalies, stomatitis, skin rashes, macrocytosis, mild homocystinemia‐(uria), and …

OBJECTIVES: To describe 3 patients with the cblD disorder, a rare inborn error of cobalamin
metabolism caused by mutations in the MMADHC gene that can result in isolated …

Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects
cobalamin metabolism. Patients are treated with hydroxycobalamin to ameliorate the clinical …

In the cblF defect of vitamin B 12 (cobalamin) metabolism, cobalamin is trapped in
lysosomes. Consequently, cobalamin coenzyme synthesis is blocked, and cofactors for …