Disease on EC 6.4.1.3 - propionyl-CoA carboxylase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
acetyl-coa c-acyltransferase deficiency
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Acidosis
Autism spectrum disorder in a child with propionic acidemia.
Propionic acidemia in a parturient presenting for induction of labor.
Agammaglobulinemia
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
carbonic anhydrase deficiency
Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood.
Clonorchiasis
The identification of antigenic proteins: 14-3-3 protein and propionyl-CoA carboxylase in Clonorchis sinensis.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Propionic acidemia in a parturient presenting for induction of labor.
Hyperglycemia
Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.
Hyperglycinemia, Nonketotic
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Hypocalcemia
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
Infection
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
Ketosis
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder.
Lethargy
Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder.
Metabolic Diseases
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases.
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.
Subacute presentation of propionic acidemia.
Metabolism, Inborn Errors
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.
Perinatal Death
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Propionic Acidemia
2-hydroxy-2-methylsuccinic acid--a urinary metabolite in propionyl-CoA carboxylase deficiency.
A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci.
Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.
Activation of propionyl-CoA carboxylase in skin fibroblasts from a patient with propionicacidemia.
Acute neonatal nonketotic hyperglycinemia: normal propionate and methylmalonate metabolism.
Adeno-associated virus serotype 8 (AAV8) Gene Transfer Rescues a Neonatal Lethal Murine Model of Propionic Acidemia.
An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia.
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Anaesthetic considerations for liver transplantation in propionic acidemia.
Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts.
Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups.
Autism spectrum disorder in a child with propionic acidemia.
Autism spectrum disorders in propionic acidemia patients.
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.
Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit.
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.
Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver.
Effects of adeno-associated virus serotype and tissue-specific expression on circulating biomarkers of propionic acidemia.
Epilepsy in patients with propionic acidemia.
Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene.
Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.
Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.
Functional characterization of PCCA mutations causing propionic acidemia.
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder.
Increased excretion of propan-1,3-diol and 3-hydroxypropionic acid apparently caused by abnormal bacterial metabolism in the gut.
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-
Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.
Long QT syndrome diagnosed in two sisters with propionic acidemia: a case report.
Long-term Sex-Biased Correction of Circulating Propionic Acidemia Disease Markers by Adeno-Associated Virus Vectors.
Mechanisms of acquired long QT syndrome in patients with propionic academia.
Metabolic studies of carnitine in a child with propionic acidemia.
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.
Mutations participating in interallelic complementation in propionic acidemia.
New splicing mutations in propionic acidemia.
Overexpression of adapted U1snRNA in patients' cells to correct a 5' splice site mutation in propionic acidemia.
Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
Pitfalls in the prenatal diagnosis of propionic acidemia.
Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia.
Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia.
Propionic acid induces convulsions and protein carbonylation in rats.
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases.
Propionic Acidemia Associated With Visual Hallucinations.
Propionic acidemia in a parturient presenting for induction of labor.
Propionic acidemia in the Arab World.
Propionic acidemia: a rare cause of cardiomyopathy.
Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.
Propionic acidemia: mutation update and functional and structural effects of the variant alleles.
Propionicacidemia: absence of alpha-chain mRNA in fibroblasts from patients of the pccA complementation group.
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.
Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism.
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.
Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation.
Subacute presentation of propionic acidemia.
Survey of health status and complications among propionic acidemia patients.
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
The variability of metabolite excretion in propionicacidaemia.
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.
Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
Two distinct mutations at the same site in the PCCB gene in propionic acidemia.
Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.
Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
[Effects of propionic acid metabolic precursors in biotin-deprived rats]
[Gene mutation analysis in patients with propionic acidemia]
[Juvenile glaucoma in propionic acidemia.]
[Molecular basis of organic acidemia--propionic acidemia]
[Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometry]
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?]
[Propionic acidemia and sodium dipropylacetate]
propionyl-coa carboxylase deficiency
2-hydroxy-2-methylsuccinic acid--a urinary metabolite in propionyl-CoA carboxylase deficiency.
A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.
Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency.
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency.
Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias.
Increased excretion of propan-1,3-diol and 3-hydroxypropionic acid apparently caused by abnormal bacterial metabolism in the gut.
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia".
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
Interallelic complementation of beta-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs.
Leukocyte propionyl-CoA carboxylase deficiency in a patient with ketotic hyperglycinaemia.
Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia.
Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.
Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.
Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation.
The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
The variability of metabolite excretion in propionicacidaemia.
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia.
[Effects of propionic acid metabolic precursors in biotin-deprived rats]
Seizures
Propionic acid induces convulsions and protein carbonylation in rats.
udp-galactopyranose mutase deficiency
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
Vitamin E Deficiency
Possible interrelationship between vitamins E and b12 in the disturbance in methylmalonate metabolism in vitamin E deficiency.