… cobalamin E (CblE) defect is a rare inborn error of cobalamin … to keep the homocysteine
levels in safe range with treatment. … Vitamin B12-responsive neonatal megaloblastic anemia and …

… disorders in which impaired remethylation of homocysteine … seizures with megaloblastic
anemia responding dramatically to … mutation as cblE disease. It is recommended to measure …

… of homocysteine to methionine leading to megaloblastic … , it is difficult to reverse existing
neurological findings. Hence, … with methylcobalamin deficiency (cobalamin E disease). Lancet …

… (MMA) and homocysteine which are useful diagnostic … (cblE, cblG, cblD-HC) include poor
feeding and vomiting with failure to thrive, megaloblastic anaemia, and neurological disease …

… Formation of MeCbl is disturbed in the cblE and cblG disorders… megaloblastic anaemia. It
is not clear whether the neuropathology in this disease results from the elevated homocysteine …

… of cobalamin E defect as a cause of the haematological and mild … If patients with macrocytic
anaemia keep vitamin B12 … previously diagnosed patients with CblE/CblG disorders. For this …

… other disorders to consider when an elevated homocysteine … megaloblastic anemia and
neurologic and ophthalmologic … Newborn screening for cblD, cblE, and cblG may be feasible by …

… and blood and plasma total homocysteine (tHcy) level are the … of megaloblastic anemia,
failure to thrive, neurologic disease, … defects like cblE and cblG, megaloblastic anemia does not …

… , cblE and cblG, in addition to cblD-HC. Patients with these disorders have both
megaloblastic anemia and neurologic … of homocysteine to methionine by liver cobalamin-independent …

… severe megaloblastic anemia, elevations of methylmalonic acid (MMA) and homocysteine,
neurologic disease, … (CblG), methionine synthase reductase (CblE), or the synthesis of methyl-…