Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methylmalonic aciduria and homocystinuria cblD

Methylmalonic aciduria and homocystinuria cblD is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MMADHC 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



Cooper BA et al. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.


Goodman SI et al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship.


Suormala T et al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.


Coelho D et al. (2008) Gene identification for the cblD defect of vitamin B12 metabolism.


Stucki M et al. (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.


Willard HF et al. (1978) Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.


Mellman I et al. (1978) Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.


Fenton WA et al. (1978) Genetic and biochemical analysis of human cobalamin mutants in cell culture.


Carmel R et al. (1980) Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.


Watkins D et al. (2000) Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).


OMIM.ORG article

Omim 277410 [^]
Update: April 29, 2019