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.
Interpretation
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.
Genetests:
Related Diseases:
References:
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Bodamer OA et al. (2001) Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
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Lerner-Ellis JP et al. (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
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Morel CF et al. (2006) Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
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Ben-Omran TI et al. (2007) Late-onset cobalamin-C disorder: a challenging diagnosis.
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Tsai AC et al. (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
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Lerner-Ellis JP et al. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
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Liu MY et al. (2010) Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
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Kömhoff M et al. (2013) Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.
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Sharma AP et al. (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
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Orphanet article
Orphanet ID 123433
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NCBI article
NCBI 25974
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OMIM.ORG article
Omim 609831
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Wikipedia article
Wikipedia EN (MMACHC)
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Update: Aug. 14, 2020