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

Mitochondrial methylmalonic aciduria and homocystinuria type C protein

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

Genetests:

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 cblC
MMACHC

References:

1.

Bodamer OA et al. (2001) Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).

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2.

Lerner-Ellis JP et al. (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

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3.

Morel CF et al. (2006) Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

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4.

Ben-Omran TI et al. (2007) Late-onset cobalamin-C disorder: a challenging diagnosis.

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5.

Tsai AC et al. (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

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6.

Lerner-Ellis JP et al. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

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7.

Liu MY et al. (2010) Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

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8.

Kömhoff M et al. (2013) Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.

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9.

Sharma AP et al. (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.

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10.

Orphanet article

Orphanet ID 123433 external link
11.

NCBI article

NCBI 25974 external link
12.

OMIM.ORG article

Omim 609831 external link
13.

Wikipedia article

Wikipedia EN (MMACHC) external link
Update: Aug. 14, 2020
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