Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methylmalonic aciduria cblB

Methylmalonic aciduria cblB is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MMAB gene.


Disorders of cobalamin metabolism
Classical homocysteinuria
Homocystinuria-megaloblastic anemia cblE
Homocystinuria-megaloblastic anemia cblG
Methylmalonic aciduria and homocystinuria cblC
Methylmalonic aciduria and homocystinuria cblD
Methylmalonic aciduria and homocystinuria cblF
Methylmalonic aciduria and homocystinuria cblJ
Methylmalonic aciduria cblA
Methylmalonic aciduria cblB
Methylmalonic aciduria type mut



Dobson CM et al. (2002) Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.


Jorge-Finnigan A et al. (2010) Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.


Brasil S et al. (2015) Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.


Fenton WA et al. (1981) The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts.


OMIM.ORG article

Omim 251110 [^]
Update: April 29, 2019