Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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 |
| 1. |
Cooper BA et al. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells. 
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| 2. |
Goodman SI et al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship.
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| 3. |
Suormala T et al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
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| 4. |
Coelho D et al. (2008) Gene identification for the cblD defect of vitamin B12 metabolism.
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| 5. |
Stucki M et al. (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
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| 6. |
NCBI article NCBI 27249
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| 7. |
OMIM.ORG article Omim 611935
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| 8. |
Orphanet article Orphanet ID 171059
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| 9. |
Wikipedia article Wikipedia EN (MMADHC)
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