Inborn disorder of cobalamin metabolism and transport
Inborn disorder of cobalamin metabolism and transport
Definition
An inherited metabolic disease affecting cobalamin (vitamin B12) intestinal absorption, transport in the blood, uptake by peripheral cells or cellular metabolism.
Also known as inborn disorder of cobalamin metabolism and transport, inborn error of cobalamin metabolic process, inborn vitamin B12 deficiency (disease), rare inborn error of cobalamin metabolic process — per MONDO