propionic acid has been researched along with Inborn Errors of Metabolism in 44 studies
propionic acid : A short-chain saturated fatty acid comprising ethane attached to the carbon of a carboxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 7.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| "In this report we summarize our experience in prenatal diagnosis of propionic acidemia (PA) since 1987." | 7.72 | Prenatal diagnosis of propionic acidemia. ( Desviat, LR; Merinero, B; Pérez, B; Pérez-Cerdá, C; Rodríguez-Pombo, P; Ugarte, M, 2004) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 3.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| " Seven infants diagnosed with methylmalonyl-CoA mutase deficiency (n=2), ornithine carbamoyltransferase deficiency (n=1), propionic acidaemia (n=1), isovaleric acidaemia (n=1), maple syrup urine disease (n=1) and glutaric acidemia type I (n=1) were tried with breastfeeding over two years." | 3.73 | Breastfeeding experience in inborn errors of metabolism other than phenylketonuria. ( Baykal, T; Demir, F; Demirkol, M; Huner, G, 2005) |
| "In this report we summarize our experience in prenatal diagnosis of propionic acidemia (PA) since 1987." | 3.72 | Prenatal diagnosis of propionic acidemia. ( Desviat, LR; Merinero, B; Pérez, B; Pérez-Cerdá, C; Rodríguez-Pombo, P; Ugarte, M, 2004) |
| "Propionic acidemia is one of the most frequent inborn errors of metabolism caused by a deficiency of propionyl-CoA carboxylase." | 3.71 | Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment. ( Inoue, Y; Kuhara, T, 2002) |
| "The French experience in the long term follow-up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported." | 3.67 | Long term outcome of organic acidurias: survey of 105 French cases (1967-1983). ( Guibaud, P; Rousson, R, 1984) |
| "We review the outcome of patients with maple syrup urine disease (14 classical patients and three variants), biotinidase deficiency (two patients) and non-cofactor-responsive variants of methylmalonic acidaemia (eight patients), propionic acidaemia (eight patients) and isolated 3-methylcrotonyl CoA carboxylase deficiency (three patients)." | 3.67 | The management and long term outcome of organic acidaemias. ( Bartlett, K; Daish, P; Leonard, JV; Naughten, ER, 1984) |
| "During an acute respiratory infection, a 4-year-old girl with propionic acidaemia deteriorated rapidly, becoming comatose with a marked acidosis." | 3.67 | Haemodialysis for metabolic decompensation in propionic acidaemia. ( Lehnert, W; Leonard, JV; Roth, B; Skopnik, H; Younossi-Hartenstein, A, 1987) |
| "Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases)." | 1.33 | Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. ( Hasegawa, Y; Hori, D; Kimura, M; Verma, IC; Yamaguchi, S; Yang, Y, 2005) |
| "Propionic acidemia (PA) is an inborn error of metabolism caused by the genetic deficiency of propionyl-CoA carboxylase (PCC)." | 1.31 | Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene. ( Aoki, Y; Haruta, I; Hata, I; Ito, Y; Kobayashi, M; Minjares, C; Miyazaki, T; Müller, U; Ohura, T; Shigematsu, Y; Suzuki, Y; Uto, H; Yamaguchi, S; Yang, X, 2001) |
| " We have previously demonstrated that methylmalonic and propionic acids induce a significant reduction of ganglioside N-acetylneuraminic acid in the brain of rats subjected to chronic administration of these metabolites." | 1.31 | Ganglioside alterations in the central nervous system of rats chronically injected with methylmalonic and propionic acids. ( Brusque, AM; Pettenuzzo, LE; Raasch, JR; Rocha, HP; Trindade, VM; Wajne, M; Wannmacher, CM, 2002) |
| "Propionic acidemia is an autosomal recessive disorder caused by a deficiency in the mitochondrial enzyme propionyl-CoA carboxylase (PCC)." | 1.30 | Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene. ( Campeau, E; Dupuis, L; Gravel, RA; Leclerc, D, 1999) |
| "Propionic acidemia is an inborn error of organic acid metabolism caused by a deficiency of propionyl Coenzyme A (CoA) carboxylase." | 1.29 | A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene. ( Iinuma, K; Narisawa, K; Ohura, T; Tada, K, 1995) |
| "Carnitine metabolism was studied in a 7-y-old boy with propionic acidemia due to an almost total deficiency of propionyl-CoA carboxylase." | 1.28 | Metabolic studies of carnitine in a child with propionic acidemia. ( Goldblatt, PJ; Gunning, WT; Hoppel, CL; Kurczynski, TW, 1989) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 10 (22.73) | 18.7374 |
| 1990's | 14 (31.82) | 18.2507 |
| 2000's | 19 (43.18) | 29.6817 |
| 2010's | 1 (2.27) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Weisfeld-Adams, JD | 1 |
| Morrissey, MA | 1 |
| Kirmse, BM | 1 |
| Salveson, BR | 1 |
| Wasserstein, MP | 1 |
| McGuire, PJ | 1 |
| Sunny, S | 1 |
| Cohen-Pfeffer, JL | 1 |
| Yu, C | 1 |
| Caggana, M | 1 |
| Diaz, GA | 1 |
| Pérez, B | 4 |
| Rincón, A | 1 |
| Jorge-Finnigan, A | 1 |
| Richard, E | 1 |
| Merinero, B | 2 |
| Ugarte, M | 4 |
| Desviat, LR | 4 |
| Inoue, Y | 1 |
| Kuhara, T | 1 |
| Walter, JH | 2 |
| Sipahi, T | 1 |
| Yilmaz, D | 1 |
| Tavil, B | 1 |
| Pérez-Cerdá, C | 3 |
| Rodríguez-Pombo, P | 4 |
| Hori, D | 1 |
| Hasegawa, Y | 2 |
| Kimura, M | 1 |
| Yang, Y | 1 |
| Verma, IC | 1 |
| Yamaguchi, S | 3 |
| de Baulny, HO | 1 |
| Benoist, JF | 1 |
| Rigal, O | 1 |
| Touati, G | 1 |
| Rabier, D | 1 |
| Saudubray, JM | 2 |
| Gebhardt, B | 1 |
| Dittrich, S | 1 |
| Parbel, S | 1 |
| Vlaho, S | 1 |
| Matsika, O | 1 |
| Bohles, H | 1 |
| Huner, G | 1 |
| Baykal, T | 1 |
| Demir, F | 1 |
| Demirkol, M | 1 |
| Manzoni, D | 1 |
| Spotti, A | 1 |
| Carrara, B | 1 |
| Gritti, P | 1 |
| Sonzogni, V | 1 |
| Kobayashi, H | 1 |
| Endo, M | 1 |
| Purevsuren, J | 1 |
| Brosch, S | 1 |
| Rauffeisen, A | 1 |
| Baur, M | 1 |
| Michels, L | 1 |
| Trefz, FK | 1 |
| Pfister, M | 1 |
| Rousson, R | 1 |
| Guibaud, P | 1 |
| Leonard, JV | 3 |
| Daish, P | 1 |
| Naughten, ER | 1 |
| Bartlett, K | 1 |
| Bachmann, C | 1 |
| Bühlmann, R | 1 |
| Colombo, JP | 1 |
| Dave, P | 1 |
| Curless, RG | 1 |
| Steinman, L | 1 |
| Di Donato, S | 1 |
| Rimoldi, M | 1 |
| Garavaglia, B | 1 |
| Uziel, G | 1 |
| Roe, CR | 1 |
| Millington, DS | 1 |
| Maltby, DA | 1 |
| Bohan, TP | 1 |
| Hoppel, CL | 2 |
| Ohura, T | 3 |
| Narisawa, K | 2 |
| Tada, K | 1 |
| Iinuma, K | 1 |
| Sugiyama, N | 1 |
| Matsuda, I | 1 |
| Wada, Y | 1 |
| Kobayashi, M | 2 |
| Kidouchi, K | 1 |
| Marsden, D | 1 |
| Barshop, BA | 1 |
| Capistrano-Estrada, S | 1 |
| Rice, M | 1 |
| Prodanos, C | 1 |
| Sartoris, D | 1 |
| Wolff, J | 1 |
| Jones, KL | 1 |
| Spector, S | 1 |
| Nyhan, WL | 1 |
| Lamhonwah, AM | 1 |
| Leclerc, D | 2 |
| Loyer, M | 1 |
| Clarizio, R | 1 |
| Gravel, RA | 2 |
| Stankovics, J | 1 |
| Ledley, FD | 1 |
| Arthur, K | 1 |
| Hommes, FA | 1 |
| Marwah, A | 1 |
| Ramji, S | 1 |
| Campeau, E | 1 |
| Dupuis, L | 1 |
| Halket, JM | 1 |
| Przyborowska, A | 1 |
| Stein, SE | 1 |
| Mallard, WG | 1 |
| Down, S | 1 |
| Chalmers, RA | 2 |
| Bonafé, L | 1 |
| Troxler, H | 1 |
| Kuster, T | 1 |
| Heizmann, CW | 1 |
| Chamoles, NA | 1 |
| Burlina, AB | 1 |
| Blau, N | 1 |
| Muro, S | 1 |
| Chloupková, M | 1 |
| Ravn, K | 1 |
| Schwartz, M | 1 |
| Kraus, JP | 1 |
| Miyazaki, T | 1 |
| Shigematsu, Y | 1 |
| Suzuki, Y | 1 |
| Hata, I | 1 |
| Aoki, Y | 1 |
| Yang, X | 1 |
| Minjares, C | 1 |
| Haruta, I | 1 |
| Uto, H | 1 |
| Ito, Y | 1 |
| Müller, U | 1 |
| Filiano, JJ | 1 |
| Bellimer, SG | 1 |
| Kunz, PL | 1 |
| Trindade, VM | 1 |
| Brusque, AM | 1 |
| Raasch, JR | 1 |
| Pettenuzzo, LE | 1 |
| Rocha, HP | 1 |
| Wannmacher, CM | 1 |
| Wajne, M | 1 |
| Byck, S | 1 |
| Rosenblatt, DS | 1 |
| Coude, MM | 1 |
| Charpentier, C | 1 |
| Bonnefont, JP | 1 |
| Cheron, G | 1 |
| Kamoun, P | 1 |
| Kamoun, PP | 1 |
| Chadefaux, B | 1 |
| Thompson, GN | 1 |
| Bresson, JL | 1 |
| Ford, GC | 1 |
| Lyonnet, SL | 1 |
| Halliday, D | 1 |
| Kurczynski, TW | 1 |
| Goldblatt, PJ | 1 |
| Gunning, WT | 1 |
| Wendel, U | 1 |
| Roth, B | 1 |
| Younossi-Hartenstein, A | 1 |
| Skopnik, H | 1 |
| Lehnert, W | 1 |
| Carafoli, E | 1 |
3 reviews available for propionic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Methylmalonic and propionic acidaemias: management and outcome.
Topics: Child, Preschool; Humans; Infant; Infant, Newborn; Long-Term Care; Metabolism, Inborn Errors; Methyl | 2005 |
[Propionic acidemia].
Topics: Carboxy-Lyases; Diagnosis, Differential; Humans; Infant, Newborn; Metabolism, Inborn Errors; Methylm | 1998 |
Mitochondrial pathology: an overview.
Topics: Adenosine Triphosphate; Animals; Autoantibodies; Calcium; Humans; Metabolism, Inborn Errors; Mitocho | 1986 |
41 other studies available for propionic acid and Inborn Errors of Metabolism
| Article | Year |
|---|---|
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Asso | 2010 |
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria).
Topics: Base Sequence; Cell Line; Exons; Genotype; Humans; Introns; Metabolism, Inborn Errors; Methylmalonyl | 2009 |
Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.
Topics: Amniotic Fluid; Citric Acid; Female; Gas Chromatography-Mass Spectrometry; Humans; Isotopes; Metabol | 2002 |
L-carnitine in inborn errors of metabolism: what is the evidence?
Topics: Acyl-CoA Dehydrogenase; Carnitine; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Propionate | 2003 |
Propionic acidemia with myelodysplasia and neutropenia in a Turkish child.
Topics: Biopsy, Needle; Bone Marrow; Humans; Infant; Male; Metabolism, Inborn Errors; Myelodysplastic Syndro | 2004 |
Prenatal diagnosis of propionic acidemia.
Topics: Amniotic Fluid; Cells, Cultured; Chorionic Villi; Chromones; DNA Mutational Analysis; Female; Humans | 2004 |
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.
Topics: Adolescent; Age of Onset; Asia; Carboxylic Acids; Child; Child, Preschool; Disease Progression; Drug | 2005 |
N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia.
Topics: Glutamates; Humans; Hyperammonemia; Infant, Newborn; Infant, Newborn, Diseases; Male; Metabolism, In | 2005 |
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria.
Topics: Amino Acid Metabolism, Inborn Errors; Breast Feeding; Child, Preschool; Follow-Up Studies; Glutarate | 2005 |
Anaesthesia for liver transplantation in two infants with an organic acidaemia.
Topics: Anesthesia; Female; Humans; Infant; Liver Transplantation; Metabolism, Inborn Errors; Methylmalonic | 2006 |
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders.
Topics: Carnitine; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; | 2007 |
[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].
Topics: Adolescent; Adult; Child; Female; Genetic Predisposition to Disease; Hearing Loss, Sensorineural; Hu | 2008 |
Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).
Topics: Acids; Adolescent; Child; Child, Preschool; France; Hemiterpenes; Humans; Infant; Infant, Newborn; M | 1984 |
The management and long term outcome of organic acidaemias.
Topics: Acids; Amidohydrolases; Biotinidase; Carbon-Carbon Ligases; Humans; Infant; Infant, Newborn; Ligases | 1984 |
Organic acids in urine: sample preparation for GC/MS.
Topics: Acids; Gas Chromatography-Mass Spectrometry; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; | 1984 |
Cerebellar hemorrhage complicating methylmalonic and propionic acidemia.
Topics: Acidosis; Bicarbonates; Cerebellar Diseases; Female; Hemorrhage; Humans; Infant, Newborn; Male; Malo | 1984 |
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.
Topics: Carnitine; Child, Preschool; Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; | 1984 |
L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia.
Topics: Acyl Coenzyme A; Adolescent; Carboxy-Lyases; Carnitine; Child; Child, Preschool; Humans; Infant; Mal | 1984 |
A novel splicing mutation in propionic acidemia associated with a tetranucleotide direct repeat in the PCCB gene.
Topics: Acyl Coenzyme A; Base Sequence; Carboxy-Lyases; Female; Humans; Japan; Metabolism, Inborn Errors; Me | 1995 |
Urinary propionylcarnitine analysis for monitoring carnitine supplementation in inherited disorders of propionate metabolism.
Topics: Adolescent; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Male; Metabolism, Inborn Err | 1994 |
Anabolic effect of human growth hormone: management of inherited disorders of catabolic pathways.
Topics: 3-Hydroxybutyric Acid; Adolescent; Age Determination by Skeleton; Bone Density; Child; Dietary Prote | 1994 |
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.
Topics: Amino Acid Sequence; Base Sequence; Carboxy-Lyases; Cell Nucleus; Cells, Cultured; Clone Cells; Cyto | 1994 |
Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts.
Topics: Amino Acid Sequence; Base Sequence; Carbon-Carbon Ligases; Cells, Cultured; Cloning, Molecular; DNA; | 1993 |
Simple isotope dilution assay for propionic acid and isovaleric acid.
Topics: Creatinine; Deuterium; Esters; Fluorobenzenes; Gas Chromatography-Mass Spectrometry; Hemiterpenes; H | 1995 |
Propionic acidemia in the newborn.
Topics: Acidosis; Fatal Outcome; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Propionates | 1997 |
Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene.
Topics: Base Sequence; Carboxy-Lyases; Cell Line; DNA; DNA Mutational Analysis; DNA Primers; Drug Stability; | 1999 |
Deconvolution gas chromatography/mass spectrometry of urinary organic acids--potential for pattern recognition and automated identification of metabolic disorders.
Topics: Acyl-CoA Dehydrogenase; Autoanalysis; Child, Preschool; Dicarboxylic Acids; Fatty Acid Desaturases; | 1999 |
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias.
Topics: Acyl-CoA Dehydrogenase; Adolescent; Adult; Amidohydrolases; Biotinidase; Carbon-Nitrogen Ligases; Ch | 2000 |
Mutations affecting the beta-beta homomeric interaction in propionic acidaemia: an approach to the determination of the beta-propionyl-CoA carboxylase functional domains.
Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Awards and Prizes; Car | 2000 |
Changes in the carboxyl terminus of the beta subunit of human propionyl-CoA carboxylase affect the oligomer assembly and catalysis: expression and characterization of seven patient-derived mutant forms of PCC in Escherichia coli.
Topics: Amino Acid Sequence; Base Sequence; Blotting, Western; Carboxy-Lyases; Catalysis; Chromatography, Ge | 2000 |
Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene.
Topics: Animals; Carboxy-Lyases; Liver; Metabolism, Inborn Errors; Methylmalonyl-CoA Decarboxylase; Mice; Mi | 2001 |
Transfection screening for defects in the PCCA and PCCB genes encoding propionyl-CoA carboxylase subunits.
Topics: Carboxy-Lyases; Cell Line; Gene Expression Regulation, Enzymologic; Genetic Complementation Test; Hu | 2002 |
Tandem mass spectrometry and newborn screening: pilot data and review.
Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Health Care Costs; Humans; Incidence; Infant | 2002 |
Ganglioside alterations in the central nervous system of rats chronically injected with methylmalonic and propionic acids.
Topics: Animals; Animals, Newborn; Body Weight; Central Nervous System; Cerebellum; Cerebral Cortex; Drug Ad | 2002 |
Metabolic cooperation among cell lines from patients with inborn errors of vitamin B12 metabolism: differential response of cblC and cblD.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Cell Division; Cells, Cultured; Fibroblas | 1991 |
Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.
Topics: Adipates; Aqueous Humor; Carboxylic Acids; Fatty Acids; Gas Chromatography-Mass Spectrometry; Humans | 1991 |
Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases.
Topics: Amniocentesis; Amniotic Fluid; Argininosuccinic Acid; Chorionic Villi Sampling; Citrulline; Female; | 1991 |
Sources of propionate in inborn errors of propionate metabolism.
Topics: Amino Acids; Child; Child, Preschool; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Metroni | 1990 |
Metabolic studies of carnitine in a child with propionic acidemia.
Topics: Carnitine; Child; Humans; Liver; Male; Metabolism, Inborn Errors; Muscles; Propionates | 1989 |
Abnormality of odd-numbered long-chain fatty acids in erythrocyte membrane lipids from patients with disorders of propionate metabolism.
Topics: Adolescent; Adult; Child; Child, Preschool; Erythrocyte Membrane; Fatty Acids; Humans; Infant; Infan | 1989 |
Haemodialysis for metabolic decompensation in propionic acidaemia.
Topics: Acidosis; Brain Diseases; Child, Preschool; Female; Humans; Metabolism, Inborn Errors; Propionates; | 1987 |