alanine has been researched along with Metabolism, Inborn Errors in 29 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
| Excerpt | Relevance | Reference |
|---|---|---|
| " This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine." | 7.65 | Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid. ( Komiya, K; Maesaka, H; Misugi, K; Tada, K, 1976) |
| " This infant was found to have lactic acidosis, low cerebrospinal fluid glucose, hyperalaninemia, and increased levels of urine lactate, pyruvate and alanine." | 3.65 | Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid. ( Komiya, K; Maesaka, H; Misugi, K; Tada, K, 1976) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 26 (89.66) | 18.7374 |
| 1990's | 2 (6.90) | 18.2507 |
| 2000's | 1 (3.45) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Morava, E | 1 |
| Hogeveen, M | 1 |
| De Vries, M | 1 |
| Ruitenbeek, W | 1 |
| de Boode, WP | 1 |
| Smeitink, J | 1 |
| Thompson, JS | 1 |
| Richardson, KE | 1 |
| Dri, P | 1 |
| Cramer, R | 1 |
| Soranzo, MR | 1 |
| Comin, A | 1 |
| Miotti, V | 1 |
| Patriarca, P | 1 |
| Hinson, DD | 1 |
| Chambliss, KL | 1 |
| Hoffmann, GF | 1 |
| Krisans, S | 1 |
| Keller, RK | 1 |
| Gibson, KM | 1 |
| Tuchman, M | 1 |
| Yudkoff, M | 1 |
| Maesaka, H | 1 |
| Komiya, K | 1 |
| Misugi, K | 1 |
| Tada, K | 4 |
| Saudubray, JM | 1 |
| Marsac, C | 1 |
| Cathelineau, CL | 1 |
| Besson Leaud, M | 1 |
| Leroux, JP | 1 |
| Shinka, T | 1 |
| Inoue, Y | 1 |
| Kuhara, T | 1 |
| Matsumoto, M | 1 |
| Matsumoto, I | 1 |
| Blass, JP | 2 |
| Lonsdale, D | 1 |
| Uhlendorf, BW | 2 |
| Hom, E | 1 |
| Avigan, J | 1 |
| Greene, HL | 1 |
| Stifel, FB | 1 |
| Herman, RH | 1 |
| Salle, B | 1 |
| Levin, B | 3 |
| Longin, B | 1 |
| Richard, P | 1 |
| Andre, M | 1 |
| Gauthier, J | 1 |
| Gutman, AB | 1 |
| Yu, TF | 1 |
| Hackett, TN | 1 |
| Bray, PF | 1 |
| Ziter, FA | 1 |
| Nyhan, WL | 1 |
| Creer, KM | 1 |
| Corbeel, L | 1 |
| Beckels, R | 1 |
| Palo, J | 1 |
| Savolainen, H | 1 |
| Iivanainen, M | 1 |
| Gordon, N | 1 |
| Marsden, HB | 1 |
| Lewis, DM | 1 |
| Palmer, T | 2 |
| Oberholzer, VG | 1 |
| Burgess, EA | 2 |
| Butler, LJ | 1 |
| Brown, RE | 1 |
| Madge, GE | 1 |
| Mamunes, P | 1 |
| Yoshida, T | 2 |
| Konno, T | 1 |
| Arakawa, T | 2 |
| Carton, D | 1 |
| Dhondt, F | 1 |
| De Schrijver, F | 1 |
| Samyn, W | 1 |
| Kint, J | 1 |
| Delbeke, MJ | 1 |
| Hooft, C | 1 |
| Kraffczyk, F | 1 |
| Helger, R | 1 |
| Lang, H | 1 |
| van Munster, PJ | 1 |
| Trijbels, JM | 1 |
| van Heeswijk, PJ | 1 |
| Moerkerk, C | 1 |
| Schut-Jansen, B | 1 |
| Malmquist, J | 1 |
| Jagenburg, R | 1 |
| Lindstedt, G | 1 |
| Hutterer, F | 1 |
| Roboz, J | 1 |
| Sarkozi, L | 1 |
| Ruhig, A | 1 |
| Bacchin, P | 1 |
| Baumgartner, R | 1 |
| Scheidegger, S | 1 |
| Stalder, G | 1 |
| Hottinger, A | 1 |
| Dobbs, RH | 1 |
29 other studies available for alanine and Metabolism, Inborn Errors
| Article | Year |
|---|---|
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism.
Topics: Alanine; Diagnosis, Differential; DNA, Mitochondrial; Energy Metabolism; Humans; Infant, Newborn; La | 2006 |
Isolation and characterization of an L-alanine: glyoxylate aminotransferase from human liver.
Topics: Alanine; Cellulose; Chromatography; Enzymes; Glyoxylates; Hot Temperature; Humans; In Vitro Techniqu | 1967 |
New approaches to the detection of myeloperoxidase deficiency.
Topics: Alanine; Eosinophils; Female; Granulocytes; Guaiacol; Humans; Male; Metabolism, Inborn Errors; Pedig | 1982 |
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiency.
Topics: Alanine; Alleles; Binding Sites; Homozygote; Humans; Kinetics; Lymphocytes; Metabolism, Inborn Error | 1997 |
Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia.
Topics: Adolescent; Adult; Alanine; Amino Acids; Ammonia; Asparagine; Carbon-Nitrogen Ligases; Child; Child, | 1999 |
Hyperalaninemia hyperpyruvicemia and lactic acidosis due to pyruvate carboxylase deficiency of the liver; treatment with thiamine and lipoic acid.
Topics: Acidosis; Alanine; Female; Glucose; Humans; Infant; Intellectual Disability; Lactates; Liver; Metabo | 1976 |
Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings.
Topics: Acetoacetates; Acidosis; Alanine; Female; Humans; Hydroxybutyrates; Infant, Newborn; Infant, Newborn | 1976 |
Benzoylalanine: detection and identification of an alanine conjugate with benzoic acid in hyperammonemic patients treated with sodium benzoate.
Topics: Alanine; Ammonia; Benzoates; Benzoic Acid; Carboxylic Acids; Child, Preschool; Chromatography, Gas; | 1985 |
Intermittent ataxia with pyruvate-decarboxylase deficiency.
Topics: Alanine; Ataxia; Carboxy-Lyases; Hartnup Disease; Humans; Male; Metabolism, Inborn Errors; Pyruvates | 1971 |
A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.
Topics: Alanine; Ataxia; Carbon Isotopes; Carboxy-Lyases; Child; Female; Fibroblasts; Humans; Lactates; Leuk | 1970 |
"Ketotic hypoglycemia" due to hepatic fructose-1,6-diphosphatase deficiency: treatment with folic acid.
Topics: Acidosis; Alanine; Aldehyde-Lyases; Child, Preschool; Fasting; Female; Folic Acid; Fructose; Fructos | 1972 |
[Congenital hyperammoniemia caused by ornithine carbamoyl-transferase and carbamyl phosphate synthetase deficiency].
Topics: Adenosine Triphosphate; Alanine; Amino Acids; Ammonia; Arginine; Biopsy; Blood Urea Nitrogen; Carbam | 1972 |
Hyperglutamatemia in primary gout.
Topics: Adult; Aged; Alanine; Ammonia; Chromatography; Fasting; Glutamates; Glutamine; Glycine; Gout; Humans | 1973 |
A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness.
Topics: Acidosis; Alanine; Child; Chromatography, Paper; Deafness; Electromyography; Female; Growth Disorder | 1973 |
Recurrent attacks of ketoacidosis with hyperlacticacidaemia, hyperpyruvicacidaemia and hyperalaninaemia.
Topics: Acidosis; Alanine; Biopsy; Child; Female; Glucose Tolerance Test; Humans; Ketoglutaric Acids; Lactat | 1973 |
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study.
Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatog | 1973 |
[Hyperalaninemia-pyruvicemia: chronic lactic acidosis].
Topics: Alanine; Child; Child, Preschool; Female; Humans; Lactates; Liver; Metabolism, Inborn Errors; Pyruva | 1973 |
Subacute necrotising encephalomyelopathy in three siblings.
Topics: Age Factors; Alanine; Brain; Brain Stem; Child, Preschool; Encephalomalacia; Female; Gluconeogenesis | 1974 |
Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.
Topics: Alanine; Ammonia; Arginine; Child, Preschool; Citrulline; Female; Genes, Dominant; Genetic Linkage; | 1974 |
Chronic lactic acidosis in infancy.
Topics: Acidosis; Alanine; Autopsy; Child, Preschool; Female; Humans; Infant; Lactates; Lipid Metabolism; Me | 1972 |
Hyperalaninemia with pyruvicemia due to pyruvate carboxylase deficiency of the liver.
Topics: Alanine; Alanine Transaminase; Amino Acids; Carbon Isotopes; Carboxy-Lyases; Child; Chromatography, | 1969 |
Histidinemia.
Topics: Acetates; Acrylates; Adolescent; Alanine; Glycine; Histidine; Humans; Imidazoles; Lactates; Lyases; | 1970 |
Two-dimensional thin-layer chromatography on two-layer plates of amino acids.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cellulose; Chromatograp | 1970 |
Abnormally high levels of lactate and pyruvate in cerebrospinal fluid of hyperalaninemia with hyperpyruvicemia.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Female; Humans; Lactates; Male; Me | 1970 |
A new sensitive method for the determination of serum carnosinase activity using l-carnosine-[I-14C] beta-alanyl as substrate.
Topics: Adult; Alanine; Carbon Isotopes; Dipeptidases; Dipeptides; Female; Hot Temperature; Humans; Infant; | 1970 |
Familial protein intolerance. Possible nature of enzyme defect.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Tran | 1971 |
Gas chromatograph-mass spectrometer-computer system for detection and indentification of abnormal metabolic products in physiological fluids.
Topics: Alanine; Amniotic Fluid; Blood Chemical Analysis; Cerebrospinal Fluid; Child; Chromatography, Gas; C | 1971 |
[Argininosuccinic aciduria disease of the newborn with lethal course].
Topics: Adult; Alanine; Amino Acids; Aminobutyrates; Anticonvulsants; Aspartic Acid; Brain Diseases; Chromat | 1968 |
Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.
Topics: Alanine; Amino Acids; Ammonia; Arginine; Citrates; Citric Acid Cycle; Diet Therapy; Dietary Proteins | 1969 |