Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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

external link

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

external link

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

external link

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

external link

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

external link

NCBI article

NCBI 27249 external link

OMIM.ORG article

Omim 611935 external link

Orphanet article

Orphanet ID 171059 external link

Wikipedia article

Wikipedia EN (MMADHC) external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits