Page last updated: 2024-10-18

glycine and Phenylketonurias

glycine has been researched along with Phenylketonurias in 45 studies

Phenylketonurias: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

Research Excerpts

ExcerptRelevanceReference
"Two patients with phenylketonuria detected by newborn screening for inborn errors of metabolism were treated with low phenylanine formulae."1.26Iatrogenic and transient hyperglycinemia in patients with phenylketonuria. ( Kambe, M; Matsuda, I; Nagata, N; Shinozuka, S; Tsuji, Y, 1979)

Research

Studies (45)

TimeframeStudies, this research(%)All Research%
pre-199040 (88.89)18.7374
1990's4 (8.89)18.2507
2000's1 (2.22)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
EFRON, ML3
YOUNG, D1
MOSER, HW1
MACCREADY, RA1
Walker, V1
Smythe, PJ1
Cook, NJ1
Ball, NA1
Veall, RM1
Whiteman, P1
Benevenga, NJ1
Steele, RD1
Dienel, GA1
Zanić-Grubisić, T1
Lipovac, K1
Tsai, MY1
Marshall, JG1
Josephson, MW1
Marques, JM1
Abadie, V1
Jaruzelska, J1
Lyonnet, S1
Millasseau, P1
Berthelon, M1
Rey, F1
Munnich, A1
Rey, J1
Knappskog, PM1
Eiken, HG1
Martínez, A1
Bruland, O1
Apold, J1
Flatmark, T1
Glushakov, AV1
Dennis, DM1
Morey, TE1
Sumners, C1
Cucchiara, RF1
Seubert, CN1
Martynyuk, AE1
Antonas, KN1
Coulson, WF1
Greco, GM1
Magli, A1
Nagata, N1
Shinozuka, S1
Matsuda, I1
Kambe, M1
Tsuji, Y1
Brady, RO1
Omenn, GS1
Erbe, RW1
Grahl-Nielsen, O1
Movik, B1
Stern, J1
Konecki, DS1
Schlotter, M1
Trefz, FK1
Lichter-Konecki, U1
McChesney, R1
Isaacs, CE1
Greengard, O1
Yadav, GC1
Reavey, PC1
Chamove, AS1
Kerr, GR1
Harlow, HF1
Holmgren, G2
Moore, PT1
Martin, MC1
Coffey, VP1
Chmaleva, NP1
Kalmykova, LG1
Brissaud, HE1
Quentin, CD1
Behbehani, AW1
Schulte, FJ1
Neuhoff, V1
Levy, HL2
Martin, JJ1
Schlote, W1
Kroll, S2
Zebisch, P2
Toussaint, W2
Tomaszewski, L1
Ampola, MG1
Thier, SO1
Alpers, DH1
Menne, F1
Lebedev, VP1
Iur'eva, EA1
Mukhina, IuG1
Buravina, TA1
Koroleva, IA1
Turner, B1
Brown, DA1
Thalhammer, O1
Scheibenreiter, S1
Schön, R1
Knoll, E1
Schmierer, G1
Tada, K1
Barkin, E1
Sietti, C1
Agrawal, HC1
Bone, AH1
Davison, AN1
Jeppson, JO1
Samuelson, G1
Perry, TL1
Bunting, R1
Tischler, B1
Hansen, S1
Diamond, S1
Weppler, VC1

Reviews

10 reviews available for glycine and Phenylketonurias

ArticleYear
AMINOACIDURIA.
    The New England journal of medicine, 1965, May-20, Volume: 272

    Topics: Amino Acid Metabolism, Inborn Errors; Diagnosis; Glycine; Humans; Kidney; Leucine; Maple Syrup Urine

1965
Adverse effects of excessive consumption of amino acids.
    Annual review of nutrition, 1984, Volume: 4

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Brain; Cattle; Diet; Disease Models, Ani

1984
[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
Inborn errors of folate metabolism (second of two parts).
    The New England journal of medicine, 1975, Oct-16, Volume: 293, Issue:16

    Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adolescent; Adult; Alcohol Oxidoreductase

1975
Genetic screening.
    Advances in human genetics, 1973, Volume: 4

    Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Sickle Cell; Arginine; Carbohydrate Metabolism, Inborn

1973
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
Disorders of intestinal transport of amino acids.
    American journal of diseases of children (1960), 1969, Volume: 117, Issue:1

    Topics: Amino Acids; Arginine; Carbohydrate Metabolism, Inborn Errors; Cystinuria; Fructose; Galactosemias;

1969
[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
[Primary and secondary hyperaminoaciduria in children (review of the literature)].
    Voprosy okhrany materinstva i detstva, 1970, Volume: 15, Issue:11

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Biological Transport, Active; Cystinuria; Fanconi

1970

Other Studies

35 other studies available for glycine and Phenylketonurias

ArticleYear
A SIMPLE CHROMATOGRAPHIC SCREENING TEST FOR THE DETECTION OF DISORDERS OF AMINO ACID METABOLISM. A TECHNIC USING WHOLE BLOOD OR URINE COLLECTED ON FILTER PAPER.
    The New England journal of medicine, 1964, Jun-25, Volume: 270

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Blood Chemical Analysis; Chromatography; Citrulli

1964
Urinary screening for abnormalities of amino acid or mucopolysaccharide metabolism in patients in a hospital for the mentally handicapped in Wessex.
    Journal of mental deficiency research, 1983, Volume: 27 (Pt 2)

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Cystinuria; Electrophoresis, Cellulose Ace

1983
Chronic hyperphenylalaninemia produces cerebral hyperglycinemia in immature rats.
    Journal of neurochemistry, 1981, Volume: 36, Issue:1

    Topics: Amino Acids; Animals; Animals, Newborn; Brain; Fenclonine; Glycine; Humans; Liver; Phenylalanine; Ph

1981
Disturbances of amino acid transport in rats with experimental hyperphenylalaninaemia.
    Journal of inherited metabolic disease, 1981, Volume: 4, Issue:2

    Topics: Amino Acids; Animals; Cerebral Cortex; Disease Models, Animal; Fenclonine; Glycine; Humans; Leucine;

1981
Free amino acid analysis of untimed and 24-h urine samples compared.
    Clinical chemistry, 1980, Volume: 26, Issue:13

    Topics: Adolescent; Adult; Age Factors; Amino Acids; Child; Child, Preschool; Circadian Rhythm; Cystinuria;

1980
Phenylketonuria with familial hyperglycinuria.
    Journal of inherited metabolic disease, 1994, Volume: 17, Issue:5

    Topics: Child; Female; Glycine; Humans; Phenylketonurias

1994
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
    Human molecular genetics, 1993, Volume: 2, Issue:1

    Topics: Amino Acid Sequence; Base Sequence; Codon; DNA; Exons; Glutamates; Glutamic Acid; Glycine; Humans; I

1993
PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.
    Human mutation, 1996, Volume: 8, Issue:3

    Topics: Aspartic Acid; Cell Line; Cloning, Molecular; Escherichia coli; Exons; Genetic Variation; Glycine; H

1996
Specific inhibition of N-methyl-D-aspartate receptor function in rat hippocampal neurons by L-phenylalanine at concentrations observed during phenylketonuria.
    Molecular psychiatry, 2002, Volume: 7, Issue:4

    Topics: Animals; Animals, Newborn; Binding Sites; Cells, Cultured; Dose-Response Relationship, Drug; Glycine

2002
Brain uptake and protein incorporation of amino acids studied in rats subjected to prolonged hyperphenylalaninaemia.
    Journal of neurochemistry, 1975, Volume: 25, Issue:3

    Topics: Amino Acids; Animals; Brain; Disease Models, Animal; Female; Fenclonine; Glycine; Humans; Leucine; L

1975
Iatrogenic and transient hyperglycinemia in patients with phenylketonuria.
    European journal of pediatrics, 1979, Volume: 132, Issue:1

    Topics: Glycine; Humans; Infant; Infant, Newborn; Male; Phenylalanine; Phenylketonurias

1979
Inherited metabolic diseases of the nervous system.
    Science (New York, N.Y.), 1976, Aug-27, Volume: 193, Issue:4255

    Topics: Amino Acid Metabolism, Inborn Errors; Aspartylglucosaminuria; Carbohydrate Metabolism, Inborn Errors

1976
A novel method for the gas chromatographic determination of phenylalanine in serum.
    Biochemical medicine, 1975, Volume: 12, Issue:2

    Topics: Chromatography, Gas; Glycine; Humans; Methods; Oxazoles; Phenylalanine; Phenylketonurias

1975
Biochemistry of mental retardation.
    Proceedings of the Royal Society of Medicine, 1975, Volume: 68, Issue:9

    Topics: Aged; Citrulline; Female; Glycine; Histidine; Humans; Infant; Infant, Newborn; Intellectual Disabili

1975
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
    Human genetics, 1991, Volume: 87, Issue:4

    Topics: Alleles; Base Sequence; Chromosome Mapping; DNA; DNA Mutational Analysis; Glutamates; Glutamic Acid;

1991
Cerebral glycine content and phosphoserine phosphatase activity in hyperaminoacidemias.
    Neurochemical research, 1987, Volume: 12, Issue:3

    Topics: Age Factors; Amino Acids; Aminomethyltransferase; Animals; Brain; Glycine; Humans; Hydroxymethyl and

1987
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
Learning in monkeys fed elevated amino acid diets.
    Journal of medical primatology, 1973, Volume: 2, Issue:3

    Topics: Alanine; Amino Acids; Animals; Diet; Discrimination Learning; Female; Food; Glycine; Haplorhini; His

1973
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
Microanalysis with 14C-dansyl chloride of amino acids and amines in the cerebrospinal fluid of patients with phenylketonuria. I. Analysis in untreated phenylketonuria.
    Neuropadiatrie, 1974, Volume: 5, Issue:2

    Topics: 5-Hydroxytryptophan; Amines; Amino Acids; Autoradiography; Carbon Radioisotopes; Chlorides; Chromato

1974
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
Amino acid excretion in infancy and early childhood. A survey of 200,000 infants.
    The Medical journal of Australia, 1972, Jan-08, Volume: 1, Issue:2

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography; Cystathionine; Cystinuria; Glycin

1972
[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
[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
[Paper chromatography in the detection of aminoacidopathies].
    Minerva pediatrica, 1971, Dec-22, Volume: 23, Issue:51

    Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acids; Chromatography, Paper; Glycine; Histidin

1971
Effect of phenylalanine on protein synthesis in the developing rat brain.
    The Biochemical journal, 1970, Volume: 117, Issue:2

    Topics: Acetates; Age Factors; Animals; Brain; Carbon Isotopes; Female; Glycine; Humans; Intellectual Disabi

1970
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
Unrecognized maternal biochemical disease: an uncommon cause of mental retardation in children.
    Journal of mental deficiency research, 1970, Volume: 14, Issue:1

    Topics: Child; Cystinuria; Female; Glycine; Humans; Infant, Newborn; Intellectual Disability; Lysine; Metabo

1970