Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Methylmalonic aciduria

Methylmalonic aciduria is an autosomal recessive metabolic disorder chracterized by elevated levels of methylmalonic acid in both blood and urine.

Systematic

Hereditary metabolic diseases
Aceruloplasminemia/Hypoceruloplasminemia
Coenzyme Q10 deficiency
Congenital disorder of glycosylation
Disorders of cobalamin metabolism
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
Hypomagnesemia
Hypomethylation syndrome
Lysosomal storage disease
MELAS syndrome
Methionine adenosyltransferase deficiency
Methylmalonic aciduria
Methylmalonic aciduria and homocystinuria cblC
MMACHC
Methylmalonic aciduria and homocystinuria cblD
MMADHC
Methylmalonic aciduria type mut
MUT
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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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.

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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16.

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

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17.

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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20.

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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Update: Sept. 26, 2018