Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Organic Acid Metabolism Disorder

Known as: Disorder of Organic Acid Metabolism 
An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.
National Institutes of Health

Related topics

Related topics

4 relations
Deficiency of acetyl-CoA acetyltransferaseInborn Errors of MetabolismIsovaleryl-CoA dehydrogenase deficiencyPropionic acidemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Mouse Models for Methylmalonic Aciduria
Methylmalonic aciduria (MMA) is a disorder of organic acid metabolism resulting from a functional defect of methylmalonyl-CoA… Expand
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • figure 5
Is this relevant?
2004
2004
Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis.
  • Allen W Elster
  • Journal of computer assisted tomography
  • 2004
    • Corpus ID: 35946422
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase. We… Expand
Is this relevant?
Highly Cited
2003
Highly Cited
2003
A Knock-out Mouse Model for Methylmalonic Aciduria Resulting in Neonatal Lethality*
Methylmalonic aciduria is a human autosomal recessive disorder of organic acid metabolism resulting from a functional defect in… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table I
Is this relevant?
1991
1991
CT and MR studies of methylmalonic acidemia.
In our case, immediately after the onset of the disease, MR showed the cytotoxic edema affecting the pallidal nuclei bilaterally… Expand
  • figure 1
Is this relevant?
1990
1990
Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.
Genetic defects in the enzyme methylmalonyl CoA mutase cause a disorder of organic acid metabolism termed "mut methylmalonic… Expand
Is this relevant?
1990
1990
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
Propionic acidemia is an inherited disorder of organic acid metabolism that is caused by deficiency of propionyl-CoA carboxylase… Expand
Is this relevant?
1990
1990
Primary structure and activity of mouse methylmalonyl-CoA mutase.
Methylmalonyl-CoA mutase (MCM) is an adenosylcobalamin-dependent enzyme that catalyses isomerization between methylmalonyl-CoA… Expand
  • table 1
  • figure 1
  • figure 2
  • table 2
  • figure 3
Is this relevant?
1988
1988
Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6.
Methylmalonyl CoA mutase (MCM) catalyzes an essential step in the degradation of several branch-chain amino acids and odd-chain… Expand
Is this relevant?
1988
1988
Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines.
L-Methylmalonyl-CoA mutase (MCM, EC 5.4.99.2) is a mitochondrial adenosylcobalamin-requiring enzyme that catalyzes the… Expand
Is this relevant?
Highly Cited
1981
Highly Cited
1981
Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
Biotin-responsive multiple carboxylase deficiency is an inherited disorder of organic acid metabolism in man in which there are… Expand
Is this relevant?
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE