The yeast mitochondrial ABC transporter Atm1, in concert with glutathione, functions in the
export of a substrate required for cytosolic-nuclear iron-sulfur protein biogenesis and cellular …

Abstract Cobalamin C (Cbl-C) defect is the most common inborn cobalamin metabolism
error; it causes impaired conversion of dietary vitamin B12 into its two metabolically active …

Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed
decreased uptake of transcobalamin‐bound cobalamin (holo‐TC), suggested a defect in the …

DISORDERS of cobalamin (vitamin B12) can be divided into those associated with a
deficiency of this essential cofactor and those due to inborn metabolic errors. When they are …

Selective intestinal malabsorption of vitamin B12 causing juvenile megaloblastic anemia
(MGA; MIM# 261100) is a recessively inherited disorder that is believed to be rare except for …

ABCC2/Abcc2 (MRP2/Mrp2) is expressed at major physiological barriers, such as the
canalicular membrane of liver cells, kidney proximal tubule epithelial cells, enterocytes of …

ABCB6, a member of the adenosine triphosphate–binding cassette (ABC) transporter family,
has been proposed to be responsible for the mitochondrial uptake of porphyrins. Here we …

X-linked sideroblastic anemia with ataxia (XLSA/A) is caused by defects of the transporter
ABCB7 and is characterized by mitochondrial iron deposition and excess of protoporphyrin …

Cobalamin (cbl) C disease is a rare autosomal recessive inheritance disease, which is the
most common cobalamin metabolic disorder. Its clinical phenotype involves multiple …

In humans, deficiencies in coenzyme B12-dependent methylmalonyl-CoA mutase (MCM)
lead to methylmalonyl aciduria, a rare disease that is often fatal in newborns. Such …