alanine has been researched along with Deficiency, Mental in 37 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.
| 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) |
| "We screened autism, mental retardation (MR), and control populations for sequence variation within this region, and identified variation in approximately 1% of MR cases screened (N = 1,410)." | 1.34 | Sequence variants within exon 1 of MECP2 occur in females with mental retardation. ( Alfred, SE; Guo, R; Harvey, CG; Kennedy, JL; Menon, SD; Mensah, AK; Minassian, BA; Mnatzakanian, GN; Noor, A; Proctor, A; Roberts, W; Scherer, SW; Srivastava, AK; Srivistava, AK; Stachowiak, B; Vincent, JB, 2007) |
| "Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males." | 1.31 | Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening? ( Errijgers, V; Frank Kooy, R; Hayez-Delatte, F; Reyniers, E; Winnepenninckx, B, 2002) |
| "The Fragile X syndrome, a common form of mental retardation in humans, is caused by silencing the fragile X mental retardation (FMR1) gene leading to the absence of the encoded fragile X mental retardation protein 1 (FMRP)." | 1.31 | Alterations of amino acids and monoamine metabolism in male Fmr1 knockout mice: a putative animal model of the human fragile X mental retardation syndrome. ( Braun, K; Gruss, M, 2001) |
| "Thiamine treatment was followed by a decrease of serum alanine and blood pyruvate and lactate, but there was no clinical improvement during a period of 17 months." | 1.25 | Subacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant. ( Bassewitz, DB; Dominick, HC; Gröbe, H; Pfeiffer, RA, 1975) |
| "Orotic aciduria was present (max: 693 mg/day) and was related to NH4 levels." | 1.25 | [Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)]. ( Beaudry, MA; Collu, R; Dallairf, L; Ducharme, JR; Leboeuf, G; Letarte, J; Melancon, SB, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 27 (72.97) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 7 (18.92) | 29.6817 |
| 2010's | 3 (8.11) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Parrock, S | 1 |
| Hussain, S | 1 |
| Issler, N | 1 |
| Differ, AM | 1 |
| Lench, N | 1 |
| Guarino, S | 1 |
| Oosterveld, MJ | 1 |
| Keijzer-Veen, M | 1 |
| Brilstra, E | 1 |
| van Wieringen, H | 1 |
| Konijnenberg, AY | 1 |
| Amin-Rasip, S | 1 |
| Dumitriu, S | 1 |
| Klootwijk, E | 1 |
| Knoers, N | 1 |
| Bockenhauer, D | 1 |
| Kleta, R | 1 |
| Zdebik, AA | 1 |
| Venkateswaran, S | 1 |
| McMillan, HJ | 1 |
| Doja, A | 1 |
| Humphreys, P | 1 |
| Yoshinaga, T | 1 |
| Sekijima, Y | 1 |
| Koyama, S | 1 |
| Maruyama, K | 1 |
| Yoshida, T | 2 |
| Kato, T | 1 |
| Ikeda, S | 1 |
| Winnepenninckx, B | 1 |
| Errijgers, V | 1 |
| Hayez-Delatte, F | 1 |
| Reyniers, E | 1 |
| Frank Kooy, R | 1 |
| GABURRO, D | 1 |
| VOLPATO, S | 1 |
| SCARPA, P | 1 |
| DINGMAN, HF | 1 |
| WRIGHT, SW | 1 |
| STAMBAUGH, R | 1 |
| DAVIDSON, DT | 1 |
| Balci, B | 1 |
| Uyanik, G | 1 |
| Dincer, P | 1 |
| Gross, C | 1 |
| Willer, T | 1 |
| Talim, B | 1 |
| Haliloglu, G | 1 |
| Kale, G | 1 |
| Hehr, U | 1 |
| Winkler, J | 1 |
| Topaloğlu, H | 1 |
| dos Santos, JM | 1 |
| Abdalla, CB | 1 |
| Campos, M | 1 |
| Santos-Rebouças, CB | 1 |
| Pimentel, MM | 1 |
| Harvey, CG | 1 |
| Menon, SD | 1 |
| Stachowiak, B | 1 |
| Noor, A | 1 |
| Proctor, A | 1 |
| Mensah, AK | 1 |
| Mnatzakanian, GN | 1 |
| Alfred, SE | 1 |
| Guo, R | 1 |
| Scherer, SW | 1 |
| Kennedy, JL | 1 |
| Roberts, W | 1 |
| Srivastava, AK | 1 |
| Srivistava, AK | 1 |
| Minassian, BA | 1 |
| Vincent, JB | 1 |
| Guerrini, R | 1 |
| Moro, F | 1 |
| Kato, M | 1 |
| Barkovich, AJ | 1 |
| Shiihara, T | 1 |
| McShane, MA | 1 |
| Hurst, J | 1 |
| Loi, M | 1 |
| Tohyama, J | 1 |
| Norci, V | 1 |
| Hayasaka, K | 1 |
| Kang, UJ | 1 |
| Das, S | 1 |
| Dobyns, WB | 1 |
| de Céspedes, C | 1 |
| Santisteban, I | 1 |
| Ortiz, D | 1 |
| Rojas, E | 1 |
| Rodríguez, J | 1 |
| Nanne, C | 1 |
| Orlich, J | 1 |
| Schröer, A | 1 |
| Scheer, MP | 1 |
| Zacharias, S | 1 |
| Schneider, S | 1 |
| Ropers, HH | 1 |
| Nothwang, HG | 1 |
| Chelly, J | 1 |
| Hamel, B | 1 |
| Fryns, JP | 1 |
| Shaw, P | 1 |
| Moraine, C | 1 |
| Gruss, M | 1 |
| Braun, K | 1 |
| Tada, K | 4 |
| Takada, G | 2 |
| Omura, K | 1 |
| Itokawa, Y | 1 |
| Maesaka, H | 1 |
| Komiya, K | 1 |
| Misugi, K | 1 |
| Simell, O | 1 |
| Perheentupa, J | 1 |
| Rapola, J | 1 |
| Visakorpi, JK | 1 |
| Eskelin, LE | 1 |
| Gröbe, H | 1 |
| Bassewitz, DB | 1 |
| Dominick, HC | 1 |
| Pfeiffer, RA | 1 |
| Beaudry, MA | 1 |
| Letarte, J | 1 |
| Collu, R | 1 |
| Leboeuf, G | 1 |
| Ducharme, JR | 1 |
| Melancon, SB | 1 |
| Dallairf, L | 1 |
| Brunette, MG | 1 |
| Delvin, E | 1 |
| Hazel, B | 1 |
| Scriver, CR | 1 |
| Daniel, WL | 1 |
| Tosi, T | 1 |
| Sugita, K | 1 |
| Fujitani, K | 1 |
| Uesaki, T | 1 |
| Palo, J | 1 |
| Savolainen, H | 1 |
| Iivanainen, M | 1 |
| Gordon, N | 1 |
| Marsden, HB | 1 |
| Lewis, DM | 1 |
| Jellinger, K | 1 |
| Gruemer, HD | 1 |
| Grannis, GF | 1 |
| Hetland, LB | 1 |
| Costantini, ML | 1 |
| Becroft, DM | 1 |
| Phillips, LI | 1 |
| Simmonds, A | 1 |
| Schweikhardt, F | 1 |
| Hessing, J | 1 |
| Stimmler, L | 1 |
| Jensen, N | 1 |
| Toseland, P | 1 |
| Malmquist, J | 1 |
| Jagenburg, R | 1 |
| Lindstedt, G | 1 |
| Dunn, HG | 1 |
| Perry, TL | 1 |
| Dolman, CL | 1 |
| Konno, T | 1 |
| Wada, Y | 1 |
| Yokoyama, Y | 1 |
| Levin, B | 1 |
| Dobbs, RH | 1 |
| Burgess, EA | 1 |
| Palmer, T | 1 |
| Hirsch, W | 1 |
| Mex, A | 1 |
| Vogel, F | 1 |
| Mann, TP | 1 |
| Prochorow, M | 1 |
| Sliwińska, H | 1 |
| Jacobson, E | 1 |
37 other studies available for alanine and Deficiency, Mental
| Article | Year |
|---|---|
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Topics: Alanine; Animals; Female; Genotype; Hearing Loss, Sensorineural; Humans; Intellectual Disability; Oo | 2013 |
Adolescent onset cognitive regression and neuropsychiatric symptoms associated with the A140V MECP2 mutation.
Topics: Activities of Daily Living; Adolescent; Adolescent Development; Age of Onset; Alanine; Cognition; Co | 2014 |
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene.
Topics: Achilles Tendon; Alanine; Ataxia; Brain; Cataract; Chenodeoxycholic Acid; Cholestanetriol 26-Monooxy | 2014 |
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?
Topics: Alanine; Amino Acid Substitution; Child, Preschool; Chromosomal Proteins, Non-Histone; Chromosomes, | 2002 |
[CONGENITAL DYSMETABOLIC CEREBROPATHY WITH HYPERGLYCEMIA, HYPERALANINURIA AND HYPEROXALURIA].
Topics: Alanine; Brain Diseases; Child; Humans; Hyperglycemia; Hyperoxaluria; Infant; Intellectual Disabilit | 1963 |
A MULTIVARIATE ANALYSIS OF AMINO-ACID EXCRETIONS.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomedical Research; Child; Chromatograp | 1964 |
EVALUATION OF THE AMINO ACID EXCRETION PATTERN OF MENTAL RETARDATES AS A SCREENING TECHNIQUE FOR INBORN ERRORS OF METABOLISM.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Child; Chromatography; Creatine; Creatini | 1964 |
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
Topics: Adolescent; Adult; Alanine; Alleles; Child; DNA Mutational Analysis; Female; Humans; Intellectual Di | 2005 |
The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males.
Topics: Adolescent; Alanine; Brazil; Child; Child, Preschool; DNA Mutational Analysis; DNA-Binding Proteins; | 2005 |
Sequence variants within exon 1 of MECP2 occur in females with mental retardation.
Topics: Adult; Alanine; Amino Acid Sequence; Autistic Disorder; Base Sequence; Case-Control Studies; DNA Mut | 2007 |
Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
Topics: Adolescent; Alanine; Atrophy; Basal Ganglia; Child; Child, Preschool; DNA Mutational Analysis; Dysto | 2007 |
[Patterns of urinary aminoacid excretion in exceptional children and patients with mental disorders in Costa Rica].
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminoisobutyric Acids; Child; Costa Rica | 1983 |
Cosegregation of T108A Elk-1 with mental retardation.
Topics: Alanine; Amino Acid Substitution; DNA-Binding Proteins; ets-Domain Protein Elk-1; Female; Genetic Li | 2000 |
Alterations of amino acids and monoamine metabolism in male Fmr1 knockout mice: a putative animal model of the human fragile X mental retardation syndrome.
Topics: 3,4-Dihydroxyphenylacetic Acid; Aging; Alanine; Amino Acids; Animals; Aspartic Acid; Brain; Brain St | 2001 |
Congenital lactic acidosis due to pyruvate carboxylase deficiency: absence of an inhibitor of TPP-ATP phosphoryl transferase.
Topics: Acidosis; Alanine; Brain Stem; Child, Preschool; Encephalomalacia; Female; Humans; Infant; Intellect | 1978 |
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 |
Lysinuric protein intolerance.
Topics: Adolescent; Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Arginine; Bi | 1975 |
Subacute necrotizing encephalomyelopathy. Clinical, ultrastructural, biochemical and therapeutic studies in an infant.
Topics: Alanine; Brain Stem; Encephalomalacia; Female; Glycogen; Humans; Infant; Intellectual Disability; La | 1975 |
[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].
Topics: Alanine; Amino Acids; Ammonia; Child, Preschool; Dietary Proteins; Erythrocytes; Growth Disorders; H | 1975 |
Genetic causes of mental subnormality.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Aneuploidy; Chromosome Aberrations; Chromosome Disord | 1973 |
Thiamine-responsive lactice acidosis in a patient with deficient low-KM pyruvate carboxylase activity in liver.
Topics: Acidosis; Adrenocorticotropic Hormone; Alanine; Amino Acids; Diet Therapy; Female; Gluconeogenesis; | 1972 |
Mental retardation associated with an unusual amino acid excretion pattern.
Topics: Acid Phosphatase; Adult; Alanine; Brain Chemistry; Cerebrosides; Child, Preschool; Chromatography, P | 1974 |
Hyperalaninemia with pyruvicemia in a patient suggestive of Leigh's encephalomyelopathy.
Topics: Alanine; Amino Acids; Brain Stem; Carbon Isotopes; Carboxy-Lyases; Child, Preschool; Encephalomalaci | 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 |
Subacute necrotising encephalomyelopathy in three siblings.
Topics: Age Factors; Alanine; Brain; Brain Stem; Child, Preschool; Encephalomalacia; Female; Gluconeogenesis | 1974 |
[Subacute necrotizing encephalomyelopathy (Leigh)].
Topics: Age Factors; Alanine; Brain Stem; Decerebrate State; Electroencephalography; Encephalomalacia; Human | 1971 |
Amino acid transport and mental retardation.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Benzyl Compounds; Biological Tr | 1971 |
Hereditary orotic aciduria: long-term therapy with uridine and a trial of uracil.
Topics: Alanine; Anemia, Macrocytic; Child; Child, Preschool; Humans; Infant; Intellectual Disability; Male; | 1969 |
[Amino acid excretion in urine and enzyme activities in blood of persons from 3 families with mental deficiency].
Topics: Acid Phosphatase; Adolescent; Adult; Alanine; Alkaline Phosphatase; Amino Acids; Aspartate Aminotran | 1969 |
Alaninuria, associated with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus in two sisters.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Birth Weight; Child, Preschool; Dental Enamel Hypopla | 1970 |
Familial protein intolerance. Possible nature of enzyme defect.
Topics: Adult; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Atrophy; Biological Tran | 1971 |
A syndrome resembling Friedreich's ataxia with relapsing polyneuropathy and hyperalaninemia.
Topics: Alanine; Brain; Child; Child, Preschool; Chronic Disease; Demyelinating Diseases; Diagnosis, Differe | 1968 |
Hyperalaninemia with pyruvicemia (preliminary report).
Topics: Alanine; Arrhythmias, Cardiac; Child; Chromatography; Electroencephalography; Female; Humans; Intell | 1969 |
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 |
Metabolic traits in mentally retarded children as compared with normal populations: monoaminodicarboxylic acids and their half amides and total amino acids.
Topics: Adolescent; Alanine; Amino Acids; Arginine; Asparagine; Aspartic Acid; Child; Child, Preschool; Chro | 1969 |
Mental retardation, abnormal hair and mild aminoaciduria, all of unknown aetiology, in siblings.
Topics: Alanine; Child, Preschool; Female; Fluoroscopy; Glutamine; Glycine; Hair; Humans; Intellectual Disab | 1969 |
[Behavior of free amino acids in the blood and cerebrospinal fluid in children with mental deficiency of unknown origin].
Topics: Alanine; Child, Preschool; Glutamine; Humans; Infant; Intellectual Disability | 1966 |