Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The MMACHC gene encodes a mitochondrial enzyme involved in cobalamin metabolism. Mutations cause autosomal recessive Methylmalonic aciduria and homocystinuria cblC.
Mutations causing aHUS are recessive (diallelic - either homozygous or compound heterozygous). Methylmalonic aciduria and homocystinuria is also described as a digenic disorder in association with PRDX1.
| 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. |
None () //// 
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| 2. |
Bodamer OA et al. (2001) Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
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| 3. |
Lerner-Ellis JP et al. (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
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| 4. |
Morel CF et al. (2006) Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
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| 5. |
Ben-Omran TI et al. (2007) Late-onset cobalamin-C disorder: a challenging diagnosis.
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| 6. |
Tsai AC et al. (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
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| 7. |
Lerner-Ellis JP et al. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
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| 8. |
Liu MY et al. (2010) Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
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| 9. |
Kömhoff M et al. (2013) Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.
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| 10. |
Sharma AP et al. (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
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| 11. |
Orphanet article Orphanet ID 123433
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| 12. |
NCBI article NCBI 25974
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| 13. |
OMIM.ORG article Omim 609831
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| 14. |
Wikipedia article Wikipedia EN (MMACHC)
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