|methylmalonzuuracidemie door transcobalaminereceptordefect (aandoening)|
methylmalonzuuracidemie door transcobalaminereceptordefect
MMA door defect in transcobalaminereceptor
Methylmalonic aciduria due to transcobalamin receptor defect
Methylmalonic acidemia TCb1R type
A rare metabolite absorption and transport disorder with characteristics of 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. Caused by mutation in the gene encoding the transcobalamin receptor (CD320).
|referentieset met complexe 'mapping' naar ICD-10|
|Correlation||SNOMED CT source code to target map code correlation not specified|