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serine and Metabolism, Inborn Errors

serine has been researched along with Metabolism, Inborn Errors in 17 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.

Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Research Excerpts

ExcerptRelevanceReference
" An adverse effect of high-dose serine therapy on head growth and on the transport of neutral amino acids across the blood-brain barrier should be considered and requires adjustment of treatment."1.31Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings. ( Häusler, MG; Jaeken, J; Mönch, E; Ramaekers, VT, 2001)

Research

Studies (17)

TimeframeStudies, this research(%)All Research%
pre-19908 (47.06)18.7374
1990's4 (23.53)18.2507
2000's3 (17.65)29.6817
2010's1 (5.88)24.3611
2020's1 (5.88)2.80

Authors

AuthorsStudies
Lotta, LA1
Pietzner, M1
Stewart, ID1
Wittemans, LBL1
Li, C1
Bonelli, R1
Raffler, J1
Biggs, EK1
Oliver-Williams, C1
Auyeung, VPW1
Luan, J1
Wheeler, E1
Paige, E1
Surendran, P1
Michelotti, GA1
Scott, RA1
Burgess, S1
Zuber, V1
Sanderson, E1
Koulman, A1
Imamura, F1
Forouhi, NG1
Khaw, KT1
Griffin, JL1
Wood, AM1
Kastenmüller, G1
Danesh, J1
Butterworth, AS1
Gribble, FM1
Reimann, F1
Bahlo, M1
Fauman, E1
Wareham, NJ1
Langenberg, C1
Almannai, M1
El-Hattab, AW1
NYHAN, WL1
CHILDS, B1
Rolland, MO1
Cuisset, L1
Le Bozec, J1
Guffon, N1
Vianey-Saban, C1
Walter, JH1
Sewell, AC1
Moritz, A1
Duran, M1
de Koning, TJ1
Poll-The, BT1
Jaeken, J2
Fowler, B1
Häusler, MG1
Mönch, E1
Ramaekers, VT1
Largillière, C2
Van Schaftingen, E1
Fontaine, M2
Farriaux, JP1
Porchet, N1
Marrakchi, S1
Lhermitte, M1
Aubert, JP1
Degand, P1
Krane, SM1
Pinnell, SR1
Erbe, RW1
Gutman, AB1
Yu, TF1
Williams, HE1
Smith, LH1
Kiss, J1
Carton, D1
Dhondt, F1
De Schrijver, F1
Samyn, W1
Kint, J1
Delbeke, MJ1
Hooft, C1
Yoshida, T1
Kikuchi, G1

Reviews

6 reviews available for serine and Metabolism, Inborn Errors

ArticleYear
Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders.
    Pediatric clinics of North America, 2018, Volume: 65, Issue:2

    Topics: Child; Child, Preschool; Coenzymes; Diagnosis, Differential; Epilepsy; Glycine; Humans; Infant; Infa

2018
Continuing education in neurometabolic disorders--serine deficiency disorders.
    Neuropediatrics, 1999, Volume: 30, Issue:1

    Topics: Adolescent; Amino Acids; Child; Deficiency Diseases; Female; Glycine; Humans; Ichthyosis; Male; Meta

1999
The folate cycle and disease in humans.
    Kidney international. Supplement, 2001, Volume: 78

    Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; 5,10-Methylenetetrahydrofolate Reductase

2001
Biochemical contribution to diagnosis and study of a new case of D-glyceric acidemia/aciduria.
    Clinical chemistry, 1989, Volume: 35, Issue:10

    Topics: Chemical Phenomena; Chemistry; Female; Fructose; Gas Chromatography-Mass Spectrometry; Glyceric Acid

1989
Disorders of oxalate metabolism.
    The American journal of medicine, 1968, Volume: 45, Issue:5

    Topics: Alcohol Oxidoreductases; Glyceric Acids; Glycolates; Humans; Intestinal Absorption; Kidney Calculi;

1968
Glycosphingolipids (sugar-sphingosine conjugates).
    Advances in carbohydrate chemistry and biochemistry, 1969, Volume: 24

    Topics: Amino Alcohols; Animals; Candida; Cerebrosides; Chemical Phenomena; Chemistry; Erythrocytes; Fatty A

1969

Other Studies

11 other studies available for serine and Metabolism, Inborn Errors

ArticleYear
A cross-platform approach identifies genetic regulators of human metabolism and health.
    Nature genetics, 2021, Volume: 53, Issue:1

    Topics: Diabetes Mellitus, Type 2; Eye Diseases; Gene Frequency; Genetic Loci; Genetic Pleiotropy; Genome, H

2021
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
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.
    Journal of inherited metabolic disease, 2005, Volume: 28, Issue:6

    Topics: Chorionic Villi; Consanguinity; Creatinine; DNA; Exons; Female; Fibroblasts; Genotype; Heterozygote;

2005
Two "new" treatable inherited biosynthetic disorders.
    Lancet (London, England), 1996, Aug-31, Volume: 348, Issue:9027

    Topics: Carbohydrate Dehydrogenases; Creatine; Humans; Infant; Male; Metabolism, Inborn Errors; Phosphoglyce

1996
D-(+)-glyceric aciduria in an Afghan hound.
    Journal of inherited metabolic disease, 1997, Volume: 20, Issue:3

    Topics: Animals; Dog Diseases; Dogs; Female; Glyceric Acids; Metabolism, Inborn Errors; Serine

1997
Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: report on two siblings.
    Neuropediatrics, 2001, Volume: 32, Issue:4

    Topics: Amino Acids; Carbohydrate Dehydrogenases; Cerebrospinal Fluid; Child; Child, Preschool; Dose-Respons

2001
D-glyceric acidaemia: clinical report and biochemical studies in a patient.
    Journal of inherited metabolic disease, 1991, Volume: 14, Issue:2

    Topics: Benzoates; Benzoic Acid; Child, Preschool; Female; Fructose; Glyceric Acids; Humans; Metabolism, Inb

1991
Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen.
    Proceedings of the National Academy of Sciences of the United States of America, 1972, Volume: 69, Issue:10

    Topics: Adolescent; Adult; Amino Acids; Cells, Cultured; Child; Collagen; Consanguinity; Ehlers-Danlos Syndr

1972
Hyperglutamatemia in primary gout.
    The American journal of medicine, 1973, Volume: 54, Issue:6

    Topics: Adult; Aged; Alanine; Ammonia; Chromatography; Fasting; Glutamates; Glutamine; Glycine; Gout; Humans

1973
Histidinemia.
    Helvetica paediatrica acta, 1970, Volume: 25, Issue:2

    Topics: Acetates; Acrylates; Adolescent; Alanine; Glycine; Histidine; Humans; Imidazoles; Lactates; Lyases;

1970
Physiological significance of glycine cleavage system in human liver as revealed by the study of a case of hyperglycinemia.
    Biochemical and biophysical research communications, 1969, May-22, Volume: 35, Issue:4

    Topics: Adult; Carbon Dioxide; Carbon Isotopes; Female; Folic Acid; Glycine; Humans; Infant; L-Serine Dehydr

1969