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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1968-2018
0204019682018

Papers overview

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2009
2009
Methylmalonic acidemia is an autosomal recessive inborn error of metabolism caused by defective activity of methylmalonyl-CoA… (More)
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2002
2002
It is believed that liver transplantation may improve the outcome of early onset methylmalonic acidemia. We report a case of… (More)
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1998
1998
A 13-year-old boy with non-B12-responsive methylmalonic acidemia (MMA) had chronic renal failure. Hemodialysis led to symptomatic… (More)
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1993
1993
We report two patients with methylmalonic acidemia (MMA) in whom renal biopsy demonstrated interstitial nephritis, bringing the… (More)
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1991
1991
Methylmalonic acidemia is a heterogeneous inborn error of propionate metabolism. Therapy frequently includes a low-protein diet… (More)
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Highly Cited
1988
Highly Cited
1988
We report four patients with methylmalonic acidemia who developed acute extrapyramidal disease after metabolic decompensation… (More)
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1988
1988
The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form… (More)
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1986
1986
A child was seen because of encephalopathy and metabolic ketoacidosis at 19 months. She was found to have a cobalamin-responsive… (More)
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1985
1985
A patient with methylmalonic acidemia was found to have a persistent hyperchloremic acidosis. Investigation documented the… (More)
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1972
1972
[l-(14)C]Propionate administered intravenously was metabolized to methylmalonate, to 3-hydroxypropionate, and to methylcitrate in… (More)
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