Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The MMADHC gene encodes a mitochondrial transport protein involved in cobalamin transport. Mutations cause autosomal recessive methylmalonic aciduria cblA.
| 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. |
Dobson CM et al. (2002) Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. 
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| 2. |
Lerner-Ellis JP et al. (2004) Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.
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| 3. |
Orphanet article Orphanet ID 123294
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| 4. |
NCBI article NCBI 166785
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| 5. |
OMIM.ORG article Omim 607481
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| 6. |
Wikipedia article Wikipedia EN (MMAA)
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