Methylmalonic Acidemia, TcblR Type

**Semantic type:** Disease or Syndrome

**Definition:** A genetic condition characterized by methylmalonic aciduria, caused by mutation(s) in the CD320 gene, encoding CD320 antigen.

**Synonyms:** - Methylmalonic Aciduria due to Transcobalamin Receptor Defect - Methylmalonic Aciduria, Transient, due to Transcobalamin Receptor Defect