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Methylmalonic acidemia

Known as: Acidemia, methylmalonic, Methylmalonic acidemias, acidemias methylmalonic 
A rare autosomal recessive inherited disorder caused by mutations of the MUT, MMAA, MMAB, MMADHC, and MCEE genes. It is characterized by… 
National Institutes of Health

Related topics

Related topics

12 relations

Broader (2)

Amino Acid Metabolism, Inborn ErrorsEnzyme Deficiency
Inborn Errors of MetabolismMENTAL RETARDATION, X-LINKED 3METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (disorder)MUT

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2006
2006
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis.
Isolated methylmalonic acidemia (MMA) is a rare metabolic disease due to the deficient activity of L-methylmalonyl-CoA mutase… 
Highly Cited
2005
Highly Cited
2005
Management of methylmalonic acidaemia by combined liver–kidney transplantation
SummaryMethylmalonic acidaemia (MMA) is a rare autosomal recessive inborn error of metabolism that typically presents in infancy… 
Review
1997
Review
1997
Mutations in mut methylmalonic acidemia: Clinical and enzymatic correlations
Mut methylmalonic acidemia is caused by mutations in the MUT locus encoding the enzyme methylmalonyl CoA mutase. Genotypic and… 
Highly Cited
1995
Highly Cited
1995
Long-term follow-up of 77 patients with isolated methylamalonic acidaemia
Four forms of isolated methylmalonic acidaemia (MMA-aemia) are known: two resulting from defective MMA-CoA mutase-apoenzyme… 
Highly Cited
1988
Highly Cited
1988
Propionate metabolism in the rat heart by 13C n.m.r. spectroscopy.
High-resolution 13C n.m.r. spectroscopy has been used to examine propionate metabolism in the perfused rat heart. A number of… 
Review
1987
Review
1987
Recent Advances in the Inherited Methylmalonic Acidemias
Methylmalonic acidemia results from decreased activity of methylalonyl‐CoA mutase, an enzyme required for the catabolism of four… 
Review
1980
Review
1980
Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine…
Congenital methylmalonic aciduria-homocystinuria,a disorder with an incompletely defined cobalamin abnormality. has not been… 
Highly Cited
1974
Highly Cited
1974
Mental retardation, megaloblastic anaemia, methylmalonic aciduria and abnormal homocysteine metabolism due to an error in vitamin B12 metabolism.
SUMMARY 1. The case is described of a child with retarded physical and mental development, recurrent megaloblastic anaemia… 
Highly Cited
1974
Highly Cited
1974
Studies on the urinary acidic metabolites excreted by patients with beta-methylcrotonylglycinuria, propionic acidaemia and methylmalonic acidaemia, using gas-liquid chromatography and mass…
Highly Cited
1973
Highly Cited
1973
Branched-chain and odd-numbered fatty acids and aldehydes in the nervous system of a patient with deranged vitamin B 12 metabolism.
A mixture of isomers of methylhexadecanoic acid was isolated from glycerolipids of brain, spinal cord, and sciatic nerve of a… 
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