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sarcosine and Amino Acid Metabolism Disorders, Inborn

sarcosine has been researched along with Amino Acid Metabolism Disorders, Inborn in 31 studies

cocobetaine: N-alkyl-betaine; cause of shampoo dermatitis

Research Excerpts

ExcerptRelevanceReference
"Hypersarcosinemia with craniostenosis-syndactylism syndrome."7.65Hypersarcosinemia with craniostenosis-syndactylism syndrome. ( Minami, R; Olek, K; Wardenbach, P, 1975)
"Hypersarcosinemia with craniostenosis-syndactylism syndrome."3.65Hypersarcosinemia with craniostenosis-syndactylism syndrome. ( Minami, R; Olek, K; Wardenbach, P, 1975)
"Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine."1.38Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. ( Abu-Horvitz, A; Anikster, Y; Auray-Blais, C; Bar-joseph, I; Benarrosh, A; Dekel, M; Dushnitzky, M; Garnotel, R; Gillery, P; Goldstein, N; Hofliger, N; Marek-Yagel, D; Pode-Shakked, B; Pras, E; Reznik-Wolf, H; Rienstein, S; Zlotnik, J, 2012)
"Sarcosine dehydrogenase is a liver mitochondrial matrix flavoenzyme that is defective in patients with sarcosinemia, a rare autosomal metabolic defect characterized by elevated levels of sarcosine in blood and urine."1.30Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. ( Eschenbrenner, M; Jorns, MS, 1999)
"Sarcosinemia has been detected by routine screening of urine for metabolic and transport disorders in Massachusetts."1.27Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia. ( Benjamin, R; Coulombe, JT; Levy, HL, 1984)
"Sarcosine was undetected in other family members."1.27Sarcosinaemia in a retarded, amaurotic child. ( Krille, M; Sewell, AC; Wilhelm, I, 1986)
"Sarcosine has no apparent transport system of its own; it uses the low K(m) transport systems for L-proline and glycine to a minor extent and a high K(m) system shared by these substances for the major uptake at concentrations encountered in hypersarcosinemia."1.25Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes. ( Delvin, E; Glorieux, FH; Mohyuddin, F; Scriver, CR, 1971)

Research

Studies (31)

TimeframeStudies, this research(%)All Research%
pre-199018 (58.06)18.7374
1990's7 (22.58)18.2507
2000's2 (6.45)29.6817
2010's3 (9.68)24.3611
2020's1 (3.23)2.80

Authors

AuthorsStudies
Tanaka, Y1
Kawano, M1
Nakashima, S1
Yamaguchi, C1
Asahina, M1
Sakamoto, M1
Shirouchi, B1
Tashiro, K1
Imaizumi, K1
Sato, M1
Pundir, CS1
Deswal, R1
Kumar, P1
de Andrade, RB1
Gemelli, T1
Rojas, DB1
Dutra-Filho, CS1
Wannmacher, CM1
Schley, G1
Höfliger, N2
Vogt, M1
Bar-joseph, I1
Pras, E1
Reznik-Wolf, H1
Marek-Yagel, D1
Abu-Horvitz, A1
Dushnitzky, M1
Goldstein, N1
Rienstein, S1
Dekel, M1
Pode-Shakked, B1
Zlotnik, J1
Benarrosh, A1
Gillery, P1
Auray-Blais, C1
Garnotel, R1
Anikster, Y1
Lee, SY1
Chan, KY1
Chan, AY1
Lai, CK1
Shih, VE1
Efron, ML1
Mechanic, GL1
Gregersen, N1
Kølvraa, S1
Rasmussen, K1
Christensen, E2
Brandt, NJ2
Ebbesen, F1
Hansen, FH1
Kang, ES1
Seyer, J1
Todd, TA1
Herrera, C1
Levy, HL1
Coulombe, JT1
Benjamin, R1
Lundberg, P1
Dudman, NP1
Kuchel, PW1
Wilcken, DE1
Brunialti, AL1
Harding, CO2
Wolff, JA2
Guénet, JL1
Meissner, T1
Mayatepek, E1
Hiraga, K2
Eschenbrenner, M1
Jorns, MS1
Minami, R1
Olek, K1
Wardenbach, P1
Blom, W1
Fernandes, J1
Williams, P1
Pflanzer, DM1
Colwell, RE1
Lyne, PW1
Sewell, AC1
Krille, M1
Wilhelm, I1
van Sprang, FJ1
Duran, M1
Scholten, HG1
Wadman, SK1
Rosenberg, T1
Frimpter, GW1
Gerritsen, T1
Hariga, J1
Hainaut, H1
Chapelle, P2
Reginster, L1
Delava, S1
Tomaszewski, L1
Tippett, P1
Danks, DM1
Menne, F1
Glorieux, FH1
Scriver, CR1
Delvin, E1
Mohyuddin, F1
Willems, C1
Heusden, A1
Hainaut, A1
Scott, CR1
Clark, SH1
Teng, CC1
Swedberg, KR1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
The Effects of Glycine Transport Inhibition on Brain Glycine Concentration[NCT00538070]68 participants (Actual)Interventional2007-08-31Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Reviews

5 reviews available for sarcosine and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Quantitative analysis of sarcosine with special emphasis on biosensors: a review.
    Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals, 2019, Volume: 24, Issue:5

    Topics: Alzheimer Disease; Amino Acid Metabolism, Inborn Errors; Biomarkers; Biosensing Techniques; Colorect

2019
[Sarcosine dehydrogenase deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Humans; Oxidoreductases, N-Demethylat

1998
[Sarcosinemia associated with folate deficiency].
    Ryoikibetsu shokogun shirizu, 1998, Issue:18 Pt 1

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis, Differential; Folic Acid Deficiency; Humans; Sarcos

1998
Aminoacidurias due to inherited disorders of metabolism. 2.
    The New England journal of medicine, 1973, Oct-25, Volume: 289, Issue:17

    Topics: Acidosis; Alanine; Amino Acid Metabolism, Inborn Errors; Arginase; Arginine; Carbamates; Citrulline;

1973
[Feeble mindedness caused by genetic disorders of amino acid metabolism].
    Hippokrates, 1968, May-31, Volume: 39, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Arginine; Citrulline; Glycine; Hartnup Disease; Histi

1968

Other Studies

26 other studies available for sarcosine and Amino Acid Metabolism Disorders, Inborn

ArticleYear
Mutation in Smek2 regulating hepatic glucose metabolism causes hypersarcosinemia and hyperhomocysteinemia in rats.
    Scientific reports, 2023, 02-21, Volume: 13, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Betaine; Glucose; Homocysteine; Hypercholesterolemia;

2023
Chemically induced acute model of sarcosinemia in wistar rats.
    Metabolic brain disease, 2016, Volume: 31, Issue:2

    Topics: Acute Disease; Amino Acid Metabolism, Inborn Errors; Animals; Animals, Newborn; Brain; Disease Model

2016
[Elevated serum creatinine without discernible kidney disease].
    Deutsche medizinische Wochenschrift (1946), 2009, Volume: 134, Issue:13

    Topics: Amino Acid Metabolism, Inborn Errors; Choline; Creatinine; Diagnosis, Differential; Humans; Kidney;

2009
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
    Human genetics, 2012, Volume: 131, Issue:11

    Topics: Amino Acid Metabolism, Inborn Errors; DNA; DNA Primers; Female; Humans; Male; Mitochondrial Diseases

2012
A report of two families with sarcosinaemia in Hong Kong and revisiting the pathogenetic potential of hypersarcosinaemia.
    Annals of the Academy of Medicine, Singapore, 2006, Volume: 35, Issue:8

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; China; Family Health; Female; Gas Chr

2006
Rapid short-column chromatography of amino acids. A method for blood and urine specimens in the diagnosis and treatment of metabolic disease.
    Analytical biochemistry, 1967, Volume: 20, Issue:2

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Aminobutyrates; Autoanalysis; Buffers; C

1967
Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.
    Journal of inherited metabolic disease, 1980, Volume: 3, Issue:3

    Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Amino Acids; Carboxylic Acids; Fatty Acid Des

1980
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
Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia.
    Pediatrics, 1984, Volume: 74, Issue:4

    Topics: Adolescent; Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Female; Huma

1984
1H NMR determination of urinary betaine in patients with premature vascular disease and mild homocysteinemia.
    Clinical chemistry, 1995, Volume: 41, Issue:2

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Creatinine; Glycine; Homocysteine; Humans; Hyd

1995
The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34.
    Genomics, 1996, Aug-15, Volume: 36, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Centromere; Chromosome Mapping; Chromosomes, Human, P

1996
Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy.
    Journal of inherited metabolic disease, 1997, Volume: 20, Issue:5

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cardiomyopathy, Hypertrophic; Female; Humans; Nervous S

1997
Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia.
    Genomics, 1999, Aug-01, Volume: 59, Issue:3

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Animals; Base Sequence; Blotting,

1999
Hypersarcosinemia with craniostenosis-syndactylism syndrome.
    Humangenetik, 1975, Jun-19, Volume: 28, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Craniosynostoses; Female; Glycine; Humans; Male; Sarcosine; Sy

1975
Folic acid dependent hypersarcosinaemia.
    Clinica chimica acta; international journal of clinical chemistry, 1979, Jan-15, Volume: 91, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Child; Female; Folic Acid; Histidine; Humans; Oxidoreductases;

1979
sar: a genetic mouse model for human sarcosinemia generated by ethylnitrosourea mutagenesis.
    Proceedings of the National Academy of Sciences of the United States of America, 1992, Apr-01, Volume: 89, Issue:7

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Ethylnitrosourea; Gas Chromatography-Mass Spectrometr

1992
Sarcosinaemia in a retarded, amaurotic child.
    European journal of pediatrics, 1986, Volume: 144, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Blindness; Female; Glycine; Humans; Infant; Intellectual Disab

1986
A patient with sarcosinaemia.
    Journal of inherited metabolic disease, 1986, Volume: 9, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Dietary Proteins; Female; Folic Acid; Humans; Infant, Newborn;

1986
Sarcosinaemia in a patient with Usher syndrome.
    Journal of inherited metabolic disease, 1989, Volume: 12, Issue:4

    Topics: Aged; Amino Acid Metabolism, Inborn Errors; Female; Humans; Kidney; Liver; Oxidoreductases, N-Demeth

1989
Sarcosine dehydrogenase deficiency, the enzyme defect in hypersarcosinemia.
    Helvetica paediatrica acta, 1972, Volume: 21, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Animals; Biopsy; Child; Female; Haplorhini; Humans; Liver; Oxi

1972
A Spanish family with sarcosinemia.
    Monographs in human genetics, 1972, Volume: 6

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Dwarfism; Ethnicity; Fem

1972
[The inborn errors of metabolism of amino acids].
    Postepy biochemii, 1973, Volume: 19, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chemical Phenomena; Chemistry; Cystinuria; Glycin

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
Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes.
    The Journal of clinical investigation, 1971, Volume: 50, Issue:11

    Topics: Absorption; Amino Acid Metabolism, Inborn Errors; Animals; Biological Transport, Active; Carbon Isot

1971
[Hypersarcosinemia with sarcosinuria. Study of a new case].
    Journal de genetique humaine, 1971, Volume: 19, Issue:1

    Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Amino Acids; Autoanalysis; Child; Chroma

1971
Clinical and cellular studies of sarcosinemia.
    The Journal of pediatrics, 1970, Volume: 77, Issue:5

    Topics: Amino Acid Metabolism, Inborn Errors; Child, Preschool; Culture Techniques; Fibroblasts; Glycine; Hu

1970