Page last updated: 2024-10-18

glycine and CBS Deficiency

glycine has been researched along with CBS Deficiency in 27 studies

Research Excerpts

ExcerptRelevanceReference
"Genetic and dietary hyperhomocysteinemia has been found to decrease high density lipoproteins (HDL) and their apolipoprotein A1 (APOA1)."7.76Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency. ( Arnal, C; Barranquero, C; Bregante, MA; García-Gimeno, MA; Gascón, S; Godino, J; Guillén, N; Guzmán, MA; Hernandez, E; Lou-Bonafonte, JM; Navarro, MA; Nuño-Ayala, M; Osada, J; Royo-Cañas, M; Sarría, AJ, 2010)
" Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups."7.73Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005)
" All patients have pyridoxine nonresponsive homocystinuria."7.68Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. ( Gu, Z; Hu, FL; Kozich, V; Kraus, JP; Ramesh, V; Shih, VE, 1993)
"Genetic and dietary hyperhomocysteinemia has been found to decrease high density lipoproteins (HDL) and their apolipoprotein A1 (APOA1)."3.76Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency. ( Arnal, C; Barranquero, C; Bregante, MA; García-Gimeno, MA; Gascón, S; Godino, J; Guillén, N; Guzmán, MA; Hernandez, E; Lou-Bonafonte, JM; Navarro, MA; Nuño-Ayala, M; Osada, J; Royo-Cañas, M; Sarría, AJ, 2010)
" Individuals with combined methylmalonic aciduria and homocystinuria have a functional impairment of the creatine synthetic pathway probably secondary to a relative depletion of labile methyl groups."3.73Creatine metabolism in combined methylmalonic aciduria and homocystinuria. ( Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C, 2005)
" All patients have pyridoxine nonresponsive homocystinuria."3.68Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. ( Gu, Z; Hu, FL; Kozich, V; Kraus, JP; Ramesh, V; Shih, VE, 1993)

Research

Studies (27)

TimeframeStudies, this research(%)All Research%
pre-199021 (77.78)18.7374
1990's3 (11.11)18.2507
2000's2 (7.41)29.6817
2010's1 (3.70)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Nuño-Ayala, M1
Guillén, N1
Navarro, MA1
Lou-Bonafonte, JM1
Arnal, C1
Gascón, S1
Barranquero, C1
Godino, J1
Royo-Cañas, M1
Sarría, AJ1
Guzmán, MA1
Hernandez, E1
Bregante, MA1
García-Gimeno, MA1
Osada, J1
Urreizti, R1
Balcells, S1
Rodés, M1
Vilarinho, L1
Baldellou, A1
Couce, ML1
Muñoz, C1
Campistol, J1
Pintó, X1
Vilaseca, MA1
Grinberg, D1
Bodamer, OA1
Sahoo, T1
Beaudet, AL1
O'Brien, WE1
Bottiglieri, T1
Stöckler-Ipsiroglu, S1
Wagner, C1
Scaglia, F1
Wellner, D1
Meister, A1
Hu, FL1
Gu, Z1
Kozich, V1
Kraus, JP2
Ramesh, V1
Shih, VE1
Dawson, PA1
Cochran, DA1
Emmerson, BT1
Dudman, NP1
Gordon, RB1
Vion-Dury, J1
Salvan, AM1
Confort-Gouny, S1
Cozzone, PJ1
Greco, GM1
Magli, A1
Omenn, GS1
Frimpter, GW1
Yadav, GC1
Reavey, PC1
Holmgren, G2
Moore, PT1
Martin, MC1
Coffey, VP1
Chmaleva, NP1
Kalmykova, LG1
Brissaud, HE1
Martin, JJ1
Schlote, W1
Kroll, S2
Zebisch, P2
Toussaint, W2
Tomaszewski, L1
Efron, ML1
Ampola, MG1
Menne, F1
Thalhammer, O1
Scheibenreiter, S1
Schön, R1
Knoll, E1
Schmierer, G1
Gaull, GE1
Morrow, G1
Barness, LA1
Tada, K1
Levy, HL1
Barkin, E1
Jeppson, JO1
Samuelson, G1

Reviews

5 reviews available for glycine and CBS Deficiency

ArticleYear
A survey of inborn errors of amino acid metabolism and transport in man.
    Annual review of biochemistry, 1981, Volume: 50

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Amino Acids, Branched-Chain; Biological Transport

1981
[Eye manifestations of amino acid disorders].
    Minerva pediatrica, 1978, May-31, Volume: 30, Issue:10

    Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria

1978
Inborn errors of metabolism: clues to understanding human behavioral disorders.
    Behavior genetics, 1976, Volume: 6, Issue:3

    Topics: Adrenal Hyperplasia, Congenital; Brain; Galactosemias; Glycine; Hepatolenticular Degeneration; Heter

1976
The aminoacidurias.
    Pediatric clinics of North America, 1967, Volume: 14, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Hartnup Disease; Histidine; Homocystinuria; Humans; H

1967
[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

22 other studies available for glycine and CBS Deficiency

ArticleYear
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency.
    Atherosclerosis, 2010, Volume: 212, Issue:1

    Topics: Administration, Oral; Animals; Apolipoprotein A-I; Beverages; Biomarkers; Blood Glucose; Cholesterol

2010
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
    Human mutation, 2003, Volume: 22, Issue:1

    Topics: Adolescent; Adult; Amino Acid Sequence; Amino Acid Substitution; Animals; Child; Child, Preschool; C

2003
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
    Annals of neurology, 2005, Volume: 57, Issue:4

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Glycine; Hom

2005
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
    Human molecular genetics, 1993, Volume: 2, Issue:11

    Topics: Adult; Amino Acid Sequence; Base Sequence; Cystathionine beta-Synthase; DNA; Exons; Female; Genes, R

1993
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
    Australian and New Zealand journal of medicine, 1996, Volume: 26, Issue:2

    Topics: Adolescent; Adult; Amino Acid Sequence; Cystathionine beta-Synthase; Female; Glycine; Heterozygote;

1996
Atlas of brain proton magnetic resonance spectra. Part II: Inherited metabolic encephalopathies.
    Journal of neuroradiology = Journal de neuroradiologie, 1998, Volume: 25, Issue:4

    Topics: Adipates; Adult; Anatomy, Artistic; Argininosuccinic Acid; Argininosuccinic Aciduria; Brain; Brain D

1998
Sulfur amino acids, hyperglycinemia, and certain possibly benign conditions.
    Clinics in perinatology, 1976, Volume: 3, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Cystathionine; Diagnosis, Differential; D

1976
Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
    Journal of inherited metabolic disease, 1988, Volume: 11, Issue:3

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Citrulline;

1988
Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.
    Human heredity, 1973, Volume: 23, Issue:6

    Topics: Abnormalities, Multiple; Adolescent; Adult; Amino Acids; Child; Eye Diseases; Female; Glycine; Glyco

1973
Screening for biochemical abnormalities in the urine of the mentally handicapped in Dublin.
    Journal of mental deficiency research, 1972, Volume: 16, Issue:2

    Topics: Adolescent; Adult; Amino Acids; Arginine; Child; Child, Preschool; Chromatography, Paper; Cystinuria

1972
[A population-biochemical study of mentally retarded persons in the Tula region (a geneologic analysis of families of probands with hereditary metabolic defects)].
    Genetika, 1974, Volume: 10, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Homocystinuria; Humans; Inbreeding; Intellectual Disa

1974
[Dietetics of amino acid metabolism disorders].
    La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1971, Feb-08, Volume: 47, Issue:7

    Topics: Amino Acid Metabolism, Inborn Errors; Diet Therapy; Glycine; Histidine; Homocystinuria; Humans; Isol

1971
Neuropathological study of aminoacidurias.
    Monographs in human genetics, 1972, Volume: 6

    Topics: Age Factors; Amino Acid Metabolism, Inborn Errors; Central Nervous System; Cystathionine; Female; Gl

1972
[Hereditary amino acid metabolism disorders. Indications for early diagnosis].
    Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

    Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine;

1972
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].
    Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

    Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora

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
[5 years of the Austrian program for the early detection of inborn errors of metabolism. Activity report].
    Wiener klinische Wochenschrift, 1972, Volume: 84

    Topics: Amino Acid Metabolism, Inborn Errors; Austria; Child, Preschool; Chromatography, Thin Layer; Diet Th

1972
Homocystinuria, vitamin B 6 , and folate: metabolic interrelationships and clinical significance.
    The Journal of pediatrics, 1972, Volume: 81, Issue:5

    Topics: Alcohol Oxidoreductases; Cystathionine; Folic Acid; Glycine; Homocystine; Homocystinuria; Humans; L-

1972
Combined vitamin responsiveness in homocystinuria.
    The Journal of pediatrics, 1972, Volume: 81, Issue:5

    Topics: Adolescent; Adult; Amino Acids; Child; Drug Synergism; Female; Folic Acid; Folic Acid Deficiency; Gl

1972
[Treatment of amino acid metabolism anomalies].
    Horumon to rinsho. Clinical endocrinology, 1971, Volume: 19, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Glycine; Homocystinuria; Humans; Phenylketonurias; Tyrosine

1971
Comparison of amino acid concentrations between plasma and erythrocytes. Studies in normal human subjects and those with metabolic disorders.
    The Journal of laboratory and clinical medicine, 1971, Volume: 78, Issue:4

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Aspartic Acid; Biological Transp

1971
High-voltage electrophoresis in urinary amino acid screening.
    Scandinavian journal of clinical and laboratory investigation, 1970, Volume: 26, Issue:4

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ampicillin; Chromatography; Cystinuria; Electroph

1970