isoleucine and Intellectual Disability

isoleucine has been researched along with Intellectual Disability in 23 studies

Research

Studies (23)

TimeframeStudies, this research(%)All Research%
pre-199017 (73.91)18.7374
1990's1 (4.35)18.2507
2000's5 (21.74)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Denman, RB; He, XY; Malik, M; McMenamin, J; Olpin, SE; Philipp, M; Sutton, VR; Yang, SY1
Andresen, BS; Berry, SA; He, M; Lussky, RC; Madsen, PP; Matern, D; Rinaldo, P; van Calcar, SC; Vockley, J; Whitley, CB; Wolff, JA1
MACKENZIE, DY; WOOLF, LI1
Ben-Omran, TI; Blaser, S; Callahan, J; Feigenbaum, A; Phillips, H1
Efron, ML1
Arakawa, T; Dancis, J; Hutzler, J; Morikawa, T; Tada, K; Wada, Y1
Bennett, MJ; Bertini, E; Burlina, AB; Dionisi-Vici, C; Gibson, KM; Hale, DE; Sabetta, G; Schmidt-Sommerfeld, E; Servidei, S; Zacchello, F1
Brand, J; Hoffmann, GF; Lindner, M; Mayatepek, E; Ruiter, JP; Wanders, RJ; Zschocke, J1
Fischer, U; Keidel, EM; Laggerbauer, B; Ostareck, D; Ostareck-Lederer, A1
Bachmann, C; Baumgartner, R; Bremer, HJ; Bruinvis, L; Duran, M; Irle, U; Ketting, D; Przyrembel, H; Wadman, SK1
Grüttner, R; Held, KR; Plettner, C; Singh, S; Sternowsky, HJ1
Baños, G; Daniel, PM; Moorhouse, SR; Pratt, OE1
Ionasescu, V; Mueller, S; Stegink, L; Weinstein, M1
Oldendorf, WH1
Iivanainen, M; Palo, J; Savolainen, H1
Hansson, O; Tuvemo, T; Westphal, O1
Hart, ZH; Krieger, I1
Arjundas, G; Chamukuttan, S; Gajanan, N; Kalyanaraman, K; Ramamurthi, B1
van der Horst, JL; Wadman, SK1
Barness, LA; Morrow, G1
Kolendrianos, ET; Schwartz, JF1
Dickinson, JP; Holton, JB; Lewis, GM; Littlewood, JM; Steel, AE1
Heeley, AF; McCubbing, DG; Shepherd, J1

Reviews

1 review(s) available for isoleucine and Intellectual Disability

ArticleYear
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
    Pediatrics, 2003, Volume: 112, Issue:1 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Diagnosis, Differential; Diet, Protein-Restricted; DNA Mutational Analysis; Ethnicity; Exons; Female; Genetic Testing; Humans; Infant, Newborn; Intellectual Disability; Isoleucine; Male; Mass Spectrometry; Neonatal Screening; Oxidoreductases Acting on CH-CH Group Donors; Sequence Deletion; Treatment Outcome

2003

Other Studies

22 other study(ies) available for isoleucine and Intellectual Disability

ArticleYear
Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism.
    Proceedings of the National Academy of Sciences of the United States of America, 2009, Sep-01, Volume: 106, Issue:35

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Amino Acid Sequence; Animals; Base Sequence; Biocatalysis; Cells, Cultured; Fibroblasts; Humans; Intellectual Disability; Isoleucine; Male; Models, Molecular; Point Mutation; Protein Structure, Tertiary; Steroids

2009
Maple syrup urine disease; an inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.
    British medical journal, 1959, Jan-10, Volume: 1, Issue:5114

    Topics: Biochemical Phenomena; Child; Humans; Infant; Intellectual Disability; Isoleucine; Leucine; Maple Syrup Urine Disease; Metabolic Diseases; Valine

1959
Atypical phenotype in a boy with a maple syrup urine disease.
    Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1

    Topics: Amino Acids, Branched-Chain; Brain; Cerebellum; Developmental Disabilities; Humans; Infant; Intellectual Disability; Isoleucine; Male; Maple Syrup Urine Disease; Phenotype

2006
Isovaleric acidemia.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Chromatography, Gas; Fatty Acids; Female; Humans; Infant; Intellectual Disability; Isoleucine; Leucine; Male; Valine

1967
Hypervalinemia. A defect in valine transamination.
    Pediatrics, 1967, Volume: 39, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carbon Isotopes; Child, Preschool; Female; Fetal Diseases; Humans; Intellectual Disability; Isoleucine; Japan; Keto Acids; Leucine; Leukocytes; Methionine; Phenylalanine; Placenta; Pregnancy; Transaminases; Valine

1967
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
    The Journal of pediatrics, 1994, Volume: 124, Issue:1

    Topics: Acyl-CoA Dehydrogenase; Brain; Chronic Disease; Cyanosis; Diarrhea; Fatty Acid Desaturases; Fatty Acids; Fibroblasts; Humans; Infant; Intellectual Disability; Isoleucine; Male; Malonates; Oxidation-Reduction; Paralysis; Purpura; Syndrome

1994
Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
    Pediatric research, 2000, Volume: 48, Issue:6

    Topics: 3-Hydroxyacyl CoA Dehydrogenases; Acetyl-CoA C-Acyltransferase; Alcohol Oxidoreductases; Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Disease Progression; Fatty Acids; Hemophilia A; Humans; Infant, Newborn; Intellectual Disability; Isoleucine; Lipid Metabolism, Inborn Errors; Male; Mitochondria; Neurodegenerative Diseases; Oxidation-Reduction; Psychomotor Agitation; Seizures

2000
Evidence that fragile X mental retardation protein is a negative regulator of translation.
    Human molecular genetics, 2001, Feb-15, Volume: 10, Issue:4

    Topics: Animals; Asparagine; Fragile X Mental Retardation Protein; Fragile X Syndrome; Humans; Intellectual Disability; Isoleucine; Microinjections; Mutagenesis, Site-Directed; Nerve Tissue Proteins; Oocytes; Peptide Chain Initiation, Translational; Protein Biosynthesis; Rabbits; Repressor Proteins; Ribosomal Proteins; RNA-Binding Proteins; RNA, Messenger; Xenopus laevis; Xenopus Proteins

2001
Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.
    European journal of pediatrics, 1979, Jan-18, Volume: 130, Issue:1

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Carboxy-Lyases; Child; Female; Fibroblasts; Humans; Intellectual Disability; Isoleucine; Muscle Spasticity; Paraplegia

1979
[Intermittent branched--chain ketoacidurie in ketotic hypoglycemia: investigations to localize the biochemical defect (author's transl)].
    Monatsschrift fur Kinderheilkunde, 1976, Volume: 124, Issue:2

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Child; Female; Fibroblasts; Humans; Hypoglycemia; Intellectual Disability; Isoleucine; Keto Acids; Ketosis; Leucine; Leukocytes; Valine

1976
Inhibition of entry of some amino acids into the brain, with observations on mental retardation in the aminoacidurias.
    Psychological medicine, 1974, Volume: 4, Issue:3

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Arginine; Biological Transport, Active; Brain; Caproates; Carbon Radioisotopes; Depression, Chemical; Drug Interactions; Humans; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Rats; Rats, Inbred Strains; Stimulation, Chemical; Threonine

1974
Amino acid abnormality in Sjögren-Larsson syndrome.
    Archives of neurology, 1973, Volume: 28, Issue:3

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Dental Enamel Hypoplasia; Epilepsy; Ethylamines; Glutamine; Glycine; Histidine; Humans; Ichthyosis; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Muscle Spasticity; Retinal Degeneration; Serine; Syndrome; Valine

1973
Saturation of blood brain barrier transport of amino acids in phenylketonuria.
    Archives of neurology, 1973, Volume: 28, Issue:1

    Topics: Amino Acids; Animals; Arginine; Blood-Brain Barrier; Brain; Carbon Isotopes; Dihydroxyphenylalanine; Female; Histidine; Humans; Intellectual Disability; Isoleucine; Leucine; Lysine; Male; Methionine; Ornithine; Phenylalanine; Phenylketonurias; Rats; Threonine; Tryptophan; Tyrosine; Valine

1973
Free amino acids and carbohydrates in the cerebrospinal fluid of 305 mentally retarded patients: a screening study.
    Journal of mental deficiency research, 1973, Volume: 17, Issue:2

    Topics: Adolescent; Adult; Alanine; Amino Acids; Arginine; Carbohydrates; Child; Child, Preschool; Chromatography, Thin Layer; Cystine; Epilepsy; Female; Glutamates; Glutamine; Humans; Intellectual Disability; Intelligence Tests; Isoleucine; Leucine; Lysine; Male; Metabolism, Inborn Errors; Methionine; Middle Aged; Ornithine; Phenylalanine; Pneumoencephalography; Threonine; Valine

1973
[Diazoxide as therapy for idiopathic hypoglycemia in children (author's transl)].
    Monatsschrift fur Kinderheilkunde, 1974, Volume: 122, Issue:1

    Topics: Catecholamines; Child; Child, Preschool; Cyanosis; Diazoxide; Diet Therapy; Fasting; Female; Fever; Humans; Hypoglycemia; Infant; Infant, Newborn; Insulin; Intellectual Disability; Isoleucine; Leucine; Male; Microcephaly; Pregnancy; Seizures; Valine

1974
Valine-sensitive nonketotic hyperglycinemia. Case report.
    The Journal of pediatrics, 1974, Volume: 85, Issue:1

    Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Benzoates; Brain Diseases; Brain Stem; Carbon Dioxide; Carbon Radioisotopes; Chromatography; Coma; Diet Therapy; Drug Hypersensitivity; Electroencephalography; Female; Glycine; Humans; Hydroxyproline; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Isoleucine; Valine

1974
Maple syrup urine disease (branched-chain keto-aciduria) variant type manifesting as hyperkinetic behaviour and mental retardation. Report of two cases.
    Journal of the neurological sciences, 1972, Volume: 15, Issue:2

    Topics: Child, Preschool; Humans; Hyperkinesis; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Pedigree; Pyruvates; Valine

1972
A variant form of branched-chain keto aciduria.
    Acta paediatrica Scandinavica, 1971, Volume: 60, Issue:5

    Topics: Amino Acids; Child Behavior Disorders; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Diet Therapy; Dietary Proteins; Female; Heterozygote; Humans; Infant; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Methionine; Motor Skills; Pedigree; Phenylketonurias; Tyrosine; Valine

1971
Studies in a patient with methylmalonic acidemia.
    The Journal of pediatrics, 1969, Volume: 74, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Diet; Dietary Proteins; Glycine; Humans; Infant; Infant, Newborn; Intellectual Disability; Isoleucine; Isomerases; Leucine; Male; Malonates; Valine; Vitamin B 12

1969
M aple syrup urine disease. A review with a report of an additional case.
    Developmental medicine and child neurology, 1969, Volume: 11, Issue:4

    Topics: Diet Therapy; Humans; Infant, Newborn; Intellectual Disability; Isoleucine; Keto Acids; Leucine; Male; Maple Syrup Urine Disease; Valine

1969
Maple syrup urine disease. Four years' experience with dietary treatment of a case.
    Acta paediatrica Scandinavica, 1969, Volume: 58, Issue:4

    Topics: Child, Preschool; Diet Therapy; Female; Humans; Infant; Infant, Newborn; Infant, Newborn, Diseases; Intellectual Disability; Isoleucine; Leucine; Maple Syrup Urine Disease; Prognosis; Time Factors; Valine

1969
Effect of pyridoxine on the metabolism of tryptophan and branched-chain amino acids in two mentally retarded sibs.
    Archives of disease in childhood, 1966, Volume: 41, Issue:220

    Topics: Child, Preschool; Female; Humans; Intellectual Disability; Isoleucine; Leucine; Male; Pyridines; Pyridoxine; Tryptophan; Valine

1966