Methylmalonic aciduria is an autosomal recessive metabolic disorder chracterized by elevated levels of methylmalonic acid in both blood and urine.
|Hereditary metabolic diseases|
|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|
|Hereditary disorders protein metabolism|
|Hereditary lipid disorders|
|Hyperzincemia and hypercalprotectinemia|
|Lysosomal storage disease|
|Methionine adenosyltransferase deficiency|
|Methylmalonic aciduria and homocystinuria cblC|
|Methylmalonic aciduria and homocystinuria cblD|
|Methylmalonic aciduria type mut|
|Urea cycle disorders|
Rosenblatt DS et al. (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).
Mellman I et al. (1978) Cobalamin binding and cobalamin-dependent enzyme activity in normal and mutant human fibroblasts.
Fenton WA et al. (1978) Genetic and biochemical analysis of human cobalamin mutants in cell culture.
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.
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).
Mudd SH et al. (1970) Deranged B 12 metabolism: studies of fibroblasts grown in tissue culture.
Mudd SH et al. (1969) A derangement in B 12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria.
None (1969) Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis.
Shinnar S et al. (1984) Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy.
Bodamer OA et al. (2001) Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
Cerone R et al. (1999) Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
Enns GM et al. (1999) Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
Andersson HC et al. () Long-term outcome in treated combined methylmalonic acidemia and homocystinemia.
Van Hove JL et al. (2002) Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.
Schimel AM et al. (2006) The natural history of retinal degeneration in association with cobalamin C (cbl C) disease.
Kaplan P et al. (2006) Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Kruszka PS et al. (2013) Renal growth in isolated methylmalonic acidemia.
Testai FD et al. (2010) Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders.
Acquaviva C et al. (2001) N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients.
Lerner-Ellis JP et al. (2006) Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Morel CF et al. (2006) Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Ben-Omran TI et al. (2007) Late-onset cobalamin-C disorder: a challenging diagnosis.
Tsai AC et al. (2007) Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Lerner-Ellis JP et al. (2009) Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Liu MY et al. (2010) Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Kömhoff M et al. (2013) Combined pulmonary hypertension and renal thrombotic microangiopathy in cobalamin C deficiency.
Sharma AP et al. (2007) Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
Cooper BA et al. (1990) Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells.
Goodman SI et al. (1970) Homocystinuria with methylmalonic aciduria: two cases in a sibship.
Suormala T et al. (2004) The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.
Coelho D et al. (2008) Gene identification for the cblD defect of vitamin B12 metabolism.
Stucki M et al. (2012) Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
Willard HF et al. (1978) Genetic complementation among inherited deficiencies of methylmalonyl-CoA mutase activity: evidence for a new class of human cobalamin mutant.
OMIM.ORG articleOmim 251000
Orphanet articleOrphanet ID 1933
Wikipedia articleWikipedia EN (Methylmalonic_acidemia)