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Propionic acidemia

Known as: Propionyl-CoA carboxylase deficiency, Hyperglycinemia With Ketoacidosis And Leukopenia, Propionic Acidemia [Disease/Finding] 
Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids… 
National Institutes of Health

Related topics

Related topics

37 relations
Acidosis, LacticAcute encephalopathyAnemiaApnea

Narrower (2)

CoQ-responsive OXPHOS deficiencyPropionicaciduria

Broader (2)

Enzyme DeficiencyHyperglycinemia

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2001
Highly Cited
2001
Local synthesis of nuclear‐encoded mitochondrial proteins in the presynaptic nerve terminal
One of the central tenets in neuroscience has been that the protein constituents of distal compartments of the neuron (e.g., the… 
Highly Cited
2001
Highly Cited
2001
Rapid Diagnosis of Methylmalonic and Propionic Aci- Demias: Quantitative Tandem Mass Spectrometric Anal- Ysis of Propionylcarnitine in Filter-paper Blood Speci- Mens Obtained from Newborns
homocysteine metabolism or whether increased tHcy may be attributable to impaired renal function or higher prevalence of other… 
Highly Cited
1994
Highly Cited
1994
Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli.
Biotin-dependent enzymes play an essential role in the metabolism of all organisms. Their biotinylation is catalyzed by… 
Highly Cited
1989
Highly Cited
1989
Formation of malonyl coenzyme A in rat heart. Identification and purification of an isozyme of A carboxylase from rat heart.
Acetyl-CoA carboxylase is thought to be absent in the heart since the latter is highly catabolic and nonlipogenic. It has been… 
Highly Cited
1979
Highly Cited
1979
An avidin monomer affinity column for the purification of biotin-containing enzymes.
Highly Cited
1977
Highly Cited
1977
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
Propionyl-CoA carboxylase (PCC) deficiency is an inherited metabolic disorder showing considerable variability of expression. We… 
Highly Cited
1972
Highly Cited
1972
On the mode of action of hypoglycin A. 3. Isolation and identification of cis-4-decene-1,10-dioic, cis, cis-4,7-decadiene-1,10-dioic, cis-4-octene-1,8-dioic, glutaric, and adipic acids, N…
Highly Cited
1970
Highly Cited
1970
Localisation of enzymic defect in propionicacidaemia.
Highly Cited
1969
Highly Cited
1969
Defective propionate carboxylation in ketotic hyperglycinaemia.
Highly Cited
1951
Highly Cited
1951
Degradation of labeled propionic and acetic acids.
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