Page last updated: 2024-11-08

serine and Intellectual Disability

serine has been researched along with Intellectual Disability in 23 studies

Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.

Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)

Research Excerpts

ExcerptRelevanceReference
"Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures."5.30Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. ( Berger, R; Blau, N; de Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Poll-The, BT; Van Schaftingen, E, 1998)
"Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones."1.46Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. ( Bertsche, A; Gesing, J; Hirsch, FW; Hoppmann, J; Kiess, W; Leroy, C; Pfäffle, R; Schuster, V; Silve, C, 2017)
"Fragile X syndrome is caused by loss of FMR1 protein expression."1.31Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties. ( Higashijima, K; Ishizuka, A; Siomi, H; Siomi, MC, 2002)
"They presented with congenital microcephaly, severe psychomotor retardation and intractable seizures."1.31Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. ( de Koning, TJ; Jaeken, J; Pineda, M; Poll-The, BT; van der Knaap, MS; Van Maldergem, L, 2000)
"Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures."1.30Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. ( Berger, R; Blau, N; de Koning, TJ; Dorland, L; Duran, M; Gooskens, R; Jaeken, J; Poll-The, BT; Van Schaftingen, E, 1998)

Research

Studies (23)

TimeframeStudies, this research(%)All Research%
pre-199017 (73.91)18.7374
1990's1 (4.35)18.2507
2000's2 (8.70)29.6817
2010's2 (8.70)24.3611
2020's1 (4.35)2.80

Authors

AuthorsStudies
den Hollander, B1
Veenvliet, ARJ1
Rothuizen-Lindenschot, M1
van Essen, P1
Peters, G1
Santos-Gómez, A1
Olivella, M1
Altafaj, X1
Brands, MM1
Jacobs, BAW1
van Karnebeek, CD1
Hoppmann, J1
Gesing, J1
Silve, C1
Leroy, C1
Bertsche, A1
Hirsch, FW1
Kiess, W1
Pfäffle, R1
Schuster, V1
Kraoua, I1
Wiame, E1
Kraoua, L1
Nasrallah, F1
Benrhouma, H1
Rouissi, A1
Turki, I1
Chaabouni, H1
Briand, G1
Kaabachi, N1
Van Schaftingen, E2
Gouider-Khouja, N1
Siomi, MC1
Higashijima, K1
Ishizuka, A1
Siomi, H1
DINGMAN, HF1
WRIGHT, SW1
NYHAN, WL2
CHILDS, B1
Kang, ES1
Seyer, J1
Todd, TA1
Herrera, C1
Lejeune, J1
de Koning, TJ2
Duran, M1
Dorland, L1
Gooskens, R1
Jaeken, J2
Blau, N1
Berger, R1
Poll-The, BT2
Pineda, M1
Van Maldergem, L1
van der Knaap, MS1
Hultberg, B1
Ockerman, PA1
Eriksson, O1
Shaw, KN1
Lieberman, E1
Koch, R1
Donnell, GN1
Ionasescu, V1
Stegink, L1
Mueller, S1
Weinstein, M1
Reploh, H1
Gröbe, H1
Diekmann, L1
Palm, D1
von Bassewitz, DB1
Jenett, W1
Tippett, P1
Danks, DM1
Kerr, GR1
Chamove, AS1
Harlow, HF1
Waisman, HA1
Sabater, J1
Ferre, C1
Antich, J1
Baumgartner, R1
Ando, T1
De Groot, CJ1
Troelstra, JA1
Hommes, FA1
McKean, CM1
Peterson, NA1
Wong, PW1
Komrower, GM1
Schwarz, V1
Bieber, G1
Cesario, S1
Mann, TP1

Reviews

1 review available for serine and Intellectual Disability

ArticleYear
3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
    Neuropediatrics, 2013, Volume: 44, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Humans; Intellectual Disability; Mal

2013

Other Studies

22 other studies available for serine and Intellectual Disability

ArticleYear
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder.
    Molecular genetics and metabolism, 2023, Volume: 138, Issue:3

    Topics: Child, Preschool; Cognition; Female; Humans; Infant; Intellectual Disability; Neurodevelopmental Dis

2023
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation.
    Journal of clinical research in pediatric endocrinology, 2017, 12-15, Volume: 9, Issue:4

    Topics: Adult; Amino Acid Substitution; Child, Preschool; Cyclic AMP-Dependent Protein Kinases; Cyclic Nucle

2017
Casein kinase II phosphorylates the fragile X mental retardation protein and modulates its biological properties.
    Molecular and cellular biology, 2002, Volume: 22, Issue:24

    Topics: Amino Acid Sequence; Animals; Casein Kinase II; Cell Fractionation; Cell Line; DNA-Binding Proteins;

2002
A MULTIVARIATE ANALYSIS OF AMINO-ACID EXCRETIONS.
    Journal of mental deficiency research, 1964, Volume: 8

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Biomedical Research; Child; Chromatograp

1964
HYPERGLYCINEMIA. V. THE MISCIBLE POOL AND TURNOVER RATE OF GLYCINE AND THE FORMATION OF SERINE.
    The Journal of clinical investigation, 1964, Volume: 43

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood; Child; Chromatography; Glycine; Humans; In

1964
Variability in the phenotypic expression of abnormal sarcosine metabolism in a family.
    Human genetics, 1983, Volume: 64, Issue:1

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Genetic Variation; Glycine; H

1983
[Fragile site Xq27 and metabolism of monocarbons].
    Comptes rendus des seances de l'Academie des sciences. Serie D, Sciences naturelles, 1980, Apr-21, Volume: 290, Issue:15

    Topics: Amino Acids; Aminolevulinic Acid; Female; Formyltetrahydrofolates; Humans; Hydroxyproline; Intellect

1980
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
    Annals of neurology, 1998, Volume: 44, Issue:2

    Topics: Carbohydrate Dehydrogenases; Child; Child, Preschool; Drug Therapy, Combination; Electroencephalogra

1998
Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency.
    Neuropediatrics, 2000, Volume: 31, Issue:6

    Topics: Amino Acids; Carbohydrate Dehydrogenases; Cerebral Cortex; Child; Child, Preschool; Choline; Demyeli

2000
Urinary amino acids in storage disorders: mucopolysaccharidosis, Gaucher's disease and metachromatic leucodystrophy.
    Metabolism: clinical and experimental, 1969, Volume: 18, Issue:8

    Topics: Adolescent; Adult; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Dif

1969
Cystathioninuria.
    American journal of diseases of children (1960), 1967, Volume: 113, Issue:1

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carcinoma, Hepatocellular; Child, Preschoo

1967
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; G

1973
The clinical findings in a patient with nonketotic hyperglycinemia.
    Zeitschrift fur Kinderheilkunde, 1973, Volume: 114, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Humans; Infant; Intellectual Disability

1973
The clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiency.
    Helvetica paediatrica acta, 1974, Volume: 29, Issue:3

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Anemia, Macrocytic; Electrophoresis; Female; Folic

1974
"Fetal PKU:" the effect of maternal hyperphenylalaninemia during pregnancy in the rhesus monkey (Macaca mulatta).
    Pediatrics, 1968, Volume: 42, Issue:1

    Topics: Amino Acids; Animals; Animals, Newborn; Birth Weight; Diet; Female; Fetal Diseases; Haplorhini; Huma

1968
Abnormal levels of aspartic acid, serine and cystine in the plasma in three cases of Rubinstein Taybi's syndrome.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 36, Issue:1

    Topics: Abnormalities, Multiple; Aspartic Acid; Chromatography, Ion Exchange; Cystine; Female; Humans; Intel

1972
Nonketotic hyperglycinemia.
    The Journal of pediatrics, 1969, Volume: 75, Issue:6

    Topics: Agranulocytosis; Amino Acid Metabolism, Inborn Errors; Benzoates; Body Weight; Carbon Isotopes; Diet

1969
Nonketotic hyperglycinemia: an in vitro study of the glycine-serine conversion in liver of three patients and the effect of dietary methionine.
    Pediatric research, 1970, Volume: 4, Issue:3

    Topics: Acidosis; Amino Acid Metabolism, Inborn Errors; Biopsy; Carbon Isotopes; Culture Techniques; Diet Th

1970
Glutamine in the phenylketonuric central nervous system.
    The New England journal of medicine, 1970, Dec-17, Volume: 283, Issue:25

    Topics: Adolescent; Adult; Amino Acids; Biological Transport, Active; Brain; Brain Chemistry; Child; Female;

1970
The biosynthesis of cystathionine in patients with homocystinuria.
    Pediatric research, 1968, Volume: 2, Issue:3

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Child; Child, Preschool; Chromato

1968
[Preliminary results of a drug therapy of a group of school-age mental retardates].
    Minerva medica, 1969, May-30, Volume: 60, Issue:43

    Topics: Adolescent; Amino Acids; Arginine; Child; Female; Glutamine; Humans; Intellectual Disability; Male;

1969
Mental retardation, abnormal hair and mild aminoaciduria, all of unknown aetiology, in siblings.
    Proceedings of the Royal Society of Medicine, 1969, Volume: 62, Issue:4

    Topics: Alanine; Child, Preschool; Female; Fluoroscopy; Glutamine; Glycine; Hair; Humans; Intellectual Disab

1969