Pyruvate carboxylase deficiency

Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.



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Narrow down the case reports



Total: 29 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(17.5%)		 10588840
 Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.
Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL.
Am J Med Genet. 1999;87(4):331-8.
Seizure Spasticity
PC
Amino Acids Child, Preschool Dose-Response Relationship, Drug Females Follow-Up Studies Homo sapiens Infant Intellectual Disability Ketosis Pyruvate Carboxylase Deficiency Disease
2
(4.0%)		 28649521
(5471145)
 Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Habarou F, Brassier A, Rio M, Chretien D, Monnot S, Barbier V, Barouki R, Bonnefont JP, Boddaert N, Chadefaux-Vekemans B, Le Moyec L, Bastin J, Ottolenghi C, de Lonlay P.
Mol Genet Metab Rep. 2015;2:25-31.
Intellectual disability
PC
2
(4.0%)		 24114256
 Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin.
Breen C, White FJ, Scott CA, Heptinstall L, Walter JH, Jones SA, Morris AA.
Eur J Pediatr. 2014;173(3):361-6.
Seizure
PC
Females Homo sapiens Infant, Newborn Pyruvate Carboxylase Deficiency Disease Triglycerides
2
(4.0%)		 23973720
 Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.
Ortez C, Jou C, Cortes-Saladelafont E, Moreno J, Perez A, Ormazabal A, Perez-Cerda C, Perez B, Artuch R, Cusi V, Garcia-Cazorla A.
Gene. 2013;532(2):302-6.
Rigidity
PC
Brain Fatal Outcome Females GABAergic Neurons Homo sapiens Parkinsonian Disorders Pyruvate Carboxylase Deficiency Disease Synaptic Transmission Tyrosine 3-Monooxygenase
2
(4.0%)		 16325442
 A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.
Schiff M, Levrat V, Acquaviva C, Vianey-Saban C, Rolland MO, Guffon N.
Mol Genet Metab. 2006;87(2):175-7.
Acidemia
PC
Brain Child Child, Preschool Differential Diagnosis Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Male Psychomotor Disorders Pyruvate Carboxylase Deficiency Disease
2
(4.0%)		 15781190
 Pyruvate carboxylase deficiency: clinical and biochemical response to anaplerotic diet therapy.
Mochel F, DeLonlay P, Touati G, Brunengraber H, Kinman RP, Rabier D, Roe CR, Saudubray JM.
Mol Genet Metab. 2005;84(4):305-12.
Hepatic failure
PC
Autopsy Brain Citrates Citric Acid Cycle Cultured Cells Females Fibroblasts Heptanoates Homo sapiens Hydrocarbons, Chlorinated Infant Infant, Newborn Liver Pregnancy Propionates Pyruvate Carboxylase Deficiency Disease Triglycerides
2
(4.0%)		 12359142
 Pyruvate carboxylase deficiency--insights from liver transplantation.
Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE, Hart MA, Hainline BE, Wappner RS, Nichols S, Haas RH.
Mol Genet Metab. 2002;77(1-2):143-9.
Metabolic acidosis
PC
Citrullinemia Homo sapiens Hyperammonemia Infant Male Pyruvate Carboxylase Deficiency Disease
2
(4.0%)		 12112657
 Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings.
Carbone MA, Applegarth DA, Robinson BH.
Hum Mutat. 2002;20(1):48-56.
Lactic acidosis
PC
c|DEL|2491_2492|GT c|DEL|IVS15+2-5|TAGG rs756355930
Alternative Splicing Base Sequence DNA DNA Mutational Analysis Homo sapiens Introns Male Northern Blotting Polymerase Chain Reaction Pyruvate Carboxylase Deficiency Disease RNA, Messenger Sequence Deletion Single-Stranded Conformational Polymorphism
2
(4.0%)		 11928941
 Pathogenic mechanism, prophylaxis, and therapy of symptomatic acidosis induced by acetazolamide.
Filippi L, Bagnoli F, Margollicci M, Zammarchi E, Tronchin M, Rubaltelli FF.
J Investig Med. 2002;50(2):125-32.
Acidosis
CA5A
Acidosis, Lactic Animal Disease Models Animals Animals, Newborn Carbonic Anhydrase Inhibitors Cavia Females Gestational Age Homo sapiens Infant, Newborn Male Preterm Infant Red Blood Cell Transfusion
2
(4.0%)		 9585002
 Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.
Wexler ID, Kerr DS, Du Y, Kaung MM, Stephenson W, Lusk MM, Wappner RS, Higgins JJ.
Pediatr Res. 1998;43(5):579-84.
Hypoglycemia
PC
c|SUB|C|1351|T;RS#:113994143 c|SUB|T|434|C;RS#:28940591 p|SUB|R|451|C;RS#:113994143 p|SUB|V|145|A;RS#:28940591 rs113994143 rs28940591
Base Sequence Cultured Cells Females Fibroblasts Genetic Carrier Screening Homo sapiens Infant Intellectual Disability Lymphocyte Male Nuclear Family Point Mutation Pyruvate Carboxylase Deficiency Disease Skin
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 13

HPO ID Term # of case reports
HP:0003128 Lactic acidosis 9
HP:0004902 Congenital lactic acidosis 4
HP:0004900 Severe lactic acidosis 2
HP:0001250 Seizures 1
HP:0001941 Acidosis 1
HP:0001942 Metabolic acidosis 1
HP:0001946 Ketosis 1
HP:0001947 Renal tubular acidosis 1
HP:0001987 Hyperammonemia 1
HP:0001993 Ketoacidosis 1
HP:0002344 Progressive neurologic deterioration 1
HP:0006976 Necrotizing encephalopathy 1
HP:0032368 Acidemia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID