Milder clinical and biochemical phenotypes associated with the c.482GÂ >Â A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening

The c.482G > A (p.Arg161Gln) pathogenic variant is associated with milder disease. These individuals may not receive a timely diagnosis as they may not be identified on newborn screening or because of unrecognized, late onset symptoms. Despite the milder presentation, significant complications can occur, especially if treatment is delayed.