Methylmalonic aciduria and homocystinuria cblJ is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the ABCD4 gene.
1. |
Coelho D et al. (2012) Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism. |
2. |
OMIM.ORG article Omim 614857 |