Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mitochondrial methylmalonic aciduria and homocystinuria type D protein

The MMADHC gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive Methylmalonic aciduria and homocystinuria cblD.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Methylmalonic aciduria and homocystinuria cblD



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.

Update: Sept. 26, 2018