Tag: Transcobalamin ii deficiency

Transcobalamin II (TC II) deficiency, a key form of B12 transport deficiency, is a rare autosomal recessive disease typically appearing in early infancy. It stems from a genetic mutation, preventing the proper movement of vitamin B12 (cobalamin) into the body's cells despite adequate dietary intake.

Transcobalamin II deficiency is a rare, life-threatening autosomal recessive disorder that typically manifests in early infancy. Recognizing the symptoms of transcobalamin II deficiency is crucial for prompt diagnosis and treatment, which can prevent severe, permanent complications, especially neurological damage.