Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methylmalonic aciduria and homocystinuria cblC

Methylmalonic aciduria and homocystinuria cblC is an autosomal recessive disturbance of cobalamin metabolism which is caused by stations of the MMACHC gene.

Systematic

Disorders of cobalamin metabolism
Classical homocysteinuria
Homocystinuria-megaloblastic anemia cblE
Homocystinuria-megaloblastic anemia cblG
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
Methylmalonic aciduria and homocystinuria cblF
Methylmalonic aciduria and homocystinuria cblJ
Methylmalonic aciduria cblA
Methylmalonic aciduria cblB
Methylmalonic aciduria type mut

References:

1.

Mellman IS et al. (1979) Genetic control of cobalamin binding in normal and mutant cells: assignment of the gene for 5-methyltetrahydrofolate:L-homocysteine S-methyltransferase to human chromosome 1.

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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.

Goodman SI et al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship.

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12.

Mudd SH et al. (1970) Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture.

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13.

Mudd SH et al. (1969) A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria.

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14.

None (1969) Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.

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15.

Shinnar S et al. (1984) Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.

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16.

Rosenblatt DS et al. (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

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17.

Cerone R et al. (1999) Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.

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18.

Enns GM et al. (1999) Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.

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19.

Andersson HC et al. () Long-term outcome in treated combined methylmalonic acidemia and homocystinemia.

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20.

Van Hove JL et al. (2002) Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

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21.

Schimel AM et al. (2006) The natural history of retinal degeneration in association with cobalamin C (cbl C) disease.

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22.

Baumgartner ER et al. (1979) Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigations.

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23.

Mellman I et al. (1979) Cobalamin coenzyme synthesis in normal and mutant human fibroblasts. Evidence for a processing enzyme activity deficient in cblC cells.

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24.

Baumgartner ER et al. (1979) Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology.

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25.

Mahoney MJ et al. (1975) Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis.

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26.

Gravel RA et al. (1975) Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism.

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27.

Russo P et al. (1992) A congenital anomaly of vitamin B12 metabolism: a study of three cases.

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28.

Brandstetter Y et al. (1990) Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type).

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29.

Bartholomew DW et al. (1988) Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.

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30.

Mudd SH et al. (1970) Deranged B 12 metabolism: effects on sulfur amino acid metabolism.

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31.

OMIM.ORG article

Omim 277400 [^]
Update: April 29, 2019