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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

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1985
1985
Distribution and degradation of biotin-containing carboxylases in human cell lines.
Incubation of cultured cells with [3H]biotin leads to the labelling of acetyl-CoA carboxylase, pyruvate carboxylase, propionyl… 
1984
1984
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency.
In biotin-responsive multiple carboxylase deficiency, a characteristic organic aciduria reflects in vivo deficiency of… 
1982
1982
CYSTINOTIC AND NORMAL FIBROBLASTS: DIFFERENTIAL PROTECTION IN CYSTINE-FREE MEDIUM BY DITHIOTHREITOL
Summary: We studied survival of normal (n=4) and cystinotic (n=3) fibroblast strains in selective (cystine-free) medium, with or… 
1981
1981
Pathway of formation of branched-chain volatile fatty acids in Ascaris mitochondria.
Disrupted Ascaris mitochondria formed 2-methylbutyrate (2-MB) and 2-methylvalerate (2-MV) when incubated anaerobically with… 
1976
1976
Magnetic resonance studies of the proximity and spatial arrangement of propionyl coenzyme A and pyruvate on a biotin-metalloenzyme, transcarboxylase.
A spin-labeled ester of CoA, R-CoA (3-carboxy-2,2,5,5-tetramethyl-1-pyrolidinyl-1-oxy CoA thioester), has been shown by… 
1976
1976
Hydrogen ion titration of horse heart ferricytochrome c.
Continuous hydrogen ion titration curves of deionized solutions of horse heart ferricytochrome c have been obtained at 25 degrees… 
1975
1975
Evidence that the two partial reactions of transcarboxylation are catalyzed by two dissimilar subunits of transcarboxylase.
The results presented here show that isolated subunits of transcarboxylase specifically catalyze the two partial reactions of… 
1974
1974
Hypoadrenalinemia during insulin hypoglycemia in children with ketotic hypoglycemia.
ABSTRACT Employing a precise and sensitive double-isotope derivative technique plasma adrenaline was measured in adults and in… 
1972
1972
Serum protein binding of erythromycin and erythromycin 2'-propionate ester.
Human serum and tissue concentrations are reported after oral administration of erythromycin stearate and propionyl erythromycin… 
1962
1962
HEPATIC DYSFUNCTION ASSOCIATED WITH TRIACETYLOLEANDOMYCIN AND PROPIONYL ERYTHROMYCIN ESTER LAURYL SULFATE