Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disorders of cobalamin metabolism

Disorders of cobalamin metabolism overlap with methylmalonic aciduria as the latter is mostly a result of a cobalamin deficiency. They are autosomal recessive metabolic disorder chracterized by elevated levels of methylmalonic acid in both blood and urine and a megaloblastic anemia.

Symptoms

Anemia
In cobalamin metabolism disorders the anemia is macrocytic.

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
Coenzyme Q10 deficiency
Congenital disorder of glycosylation
Disorders of cobalamin metabolism
Classical homocysteinuria
CBS
Homocystinuria-megaloblastic anemia cblE
MTRR
Homocystinuria-megaloblastic anemia cblG
MTR
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria and homocystinuria cblF
LMBRD1
Methylmalonic aciduria and homocystinuria cblJ
ABCD4
Methylmalonic aciduria cblA
MMAA
Methylmalonic aciduria cblB
MMAB
Methylmalonic aciduria type mut
MUT
Disorders of iron metabolism
Disorders of urate metabolism
Disturbances in phosphate metabolism
Disturbances of glucose metabolism
Food intolerance
Genetic hyperbilirubinemia
Glycolipidosis
HADH deficiency
Hereditary lipid disorders
Hypercatabolic hypoproteinemia
Hyperzincemia and hypercalprotectinemia
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Urea cycle disorders

References:

1.

Acquaviva C et al. (2001) N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.

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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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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.

Cooper BA et al. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.

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12.

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

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13.

Suormala T et al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

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14.

Coelho D et al. (2008) Gene identification for the cblD defect of vitamin B12 metabolism.

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15.

Stucki M et al. (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

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Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.

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Willard HF et al. (1978) Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.

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18.

Mellman I et al. (1978) Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.

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19.

Fenton WA et al. (1978) Genetic and biochemical analysis of human cobalamin mutants in cell culture.

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Carmel R et al. (1980) Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.

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21.

Watkins D et al. (2000) Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH).

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22.

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

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23.

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

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24.

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

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25.

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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26.

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

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27.

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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28.

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

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29.

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

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30.

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

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31.

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

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32.

Kaplan P et al. (2006) Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.

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33.

Kruszka PS et al. (2013) Renal growth in isolated methylmalonic acidemia.

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34.

OMIM.ORG article

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Update: April 29, 2019