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|
|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 articleOmim 277410