Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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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Update: Sept. 26, 2018