methylmalonic acidemia due to transcobalamin receptor defect
Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported.
MONDO:0002012
methylmalonic acidemia
is_a
MONDO:0019220
inborn disorder of cobalamin metabolism and transport
is_a
CD320 methylmalonic acidemia
exact
methylmalonic acidemia caused by mutation in CD320
exact
methylmalonic acidemia, TCb1R type
exact
methylmalonic acidemia, TCbIR type
exact
methylmalonic aciduria due to transcobalamin receptor defect
exact