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homovanillic acid and Phenylketonurias

homovanillic acid has been researched along with Phenylketonurias in 23 studies

Homovanillic Acid: A 3-O-methyl ETHER of (3,4-dihydroxyphenyl)acetic acid.
homovanillate : A hydroxy monocarboxylic acid anion which is obtained by deprotonation of the carboxy group of homovanillic acid.
homovanillic acid : A monocarboxylic acid that is the 3-O-methyl ether of (3,4-dihydroxyphenyl)acetic acid. It is a catecholamine metabolite.

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
"Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia."3.96Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth. ( Andrews, A; Burlina, A; Longo, N; Manzoni, F; Pasquali, M; Salvatici, E, 2020)
"In a group of 9 patients with classical phenylketonuria (PKU) aged 15-24 years we examined the effect of phenylalanine restricted diet on vigilance, as judged by the continuous visual reaction times, and neurotransmitter synthesis, as judged by cerebrospinal fluid (CSF) homovanillic acid (HVA) and 5-hydroxyindole acetic acid (5-HIAA) levels."2.66Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria. ( Bruhn, P; Gerdes, AM; Lou, HC; Lykkelund, C; Udesen, H, 1987)
"Biogenic amines synthesis in phenylketonuria (PKU) patients with high phenylalanine (Phe) concentration is thought to be impaired due to inhibition of tyrosine and tryptophan hydroxylases and competition with amino acids at the blood-brain barrier."1.51Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria. ( Berg, D; Blau, N; Burgard, P; Deuschl, C; Freisinger, P; Georg, H; Gramer, G; Haas, D; Kölker, S; Leks, E; Nawroth, P; Piel, D; Pilotto, A; Scheffler, K; Schulte, C; Trefz, F; Zipser, C, 2019)
" Time of diagnosis, dosage of BH4 and neurotransmitter precursors, folinic acid substitution, and levels of 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid (HVA) in cerebrospinal fluid (CSF) are essential parameters in the follow-up of patients."1.35Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. ( Ballhausen, D; Baumgartner, MR; Blau, N; Fiori, L; Giovannini, M; Hoffmann, GF; Ibel, H; Jäggi, L; Ponzone, A; Porta, F; Santer, R; Schuler, A; Wendel, U; Zurflüh, MR, 2008)
"In a child presenting with malignant phenylketonuria due to dihydrobiopterin synthetase deficiency, the authors studied the cerebrospinal fluid (CSF) homovanillic acid and 5 hydroxyindole acetic acid levels under different circumstances: without treatment; under a treatment with tetrahydrobiopterin used alone at various doses; under a treatment associating BH4, L-dopa, 5 hydroxytryptophan and carbidopa, with increasing doses and varying administration schedules."1.27[Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment]. ( Boespflug, O; Demeocq, F; Guyon, A; Malpuech, G; Piton, A; Vanlieferinghen, P, 1984)
"Seven phenylketonuria (PKU) patients aged 15-24 years were allowed unrestricted diet for 3 weeks."1.27Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine. ( Christensen, E; Gerdes, AM; Güttler, F; Lou, HC; Lykkelund, C; Nielsen, JB; Rasmussen, V, 1988)
"It is postulated that the seizures and neurological deterioration of the patient were related to a deficiency in the synthesis of biogenic amine neurotransmitters."1.26Biogenic amine synthesis defect in dihydropteridine reductase deficiency. ( Butler, IJ; Koslow, SH, 1977)

Research

Studies (23)

TimeframeStudies, this research(%)All Research%
pre-199013 (56.52)18.7374
1990's3 (13.04)18.2507
2000's3 (13.04)29.6817
2010's2 (8.70)24.3611
2020's2 (8.70)2.80

Authors

AuthorsStudies
Wong, RSH1
Mohammad, S1
Parayil Sankaran, B1
Junek, R1
Kim, WT1
Wotton, T1
Devanapalli, B1
Bandodkar, S1
Balasubramaniam, S1
Manzoni, F1
Salvatici, E1
Burlina, A1
Andrews, A1
Pasquali, M1
Longo, N1
Pilotto, A1
Blau, N5
Leks, E1
Schulte, C1
Deuschl, C1
Zipser, C1
Piel, D1
Freisinger, P1
Gramer, G1
Kölker, S1
Haas, D1
Burgard, P1
Nawroth, P1
Georg, H1
Scheffler, K1
Berg, D1
Trefz, F1
Winn, SR1
Scherer, T1
Thöny, B2
Harding, CO1
Jäggi, L1
Zurflüh, MR1
Schuler, A1
Ponzone, A2
Porta, F1
Fiori, L1
Giovannini, M1
Santer, R1
Hoffmann, GF1
Ibel, H1
Wendel, U1
Ballhausen, D1
Baumgartner, MR1
Malpuech, G1
Guyon, A1
Demeocq, F1
Piton, A1
Boespflug, O1
Vanlieferinghen, P1
de Almeida, IT1
Leandro, PP1
Portela, R1
Cabral, A1
Eusébio, F1
Tasso, T1
Matasovic, A2
Diamond, A1
Ciaramitaro, V1
Donner, E1
Djali, S1
Robinson, MB1
Renneberg, A1
Arnold, LA1
Hyland, K1
Puglisi-Allegra, S1
Cabib, S1
Pascucci, T1
Ventura, R1
Cali, F1
Romano, V1
Burlina, AB1
Bonafé, L1
Ferrari, V1
Suppiej, A1
Zacchello, F1
Burlina, AP1
Koslow, SH2
Butler, IJ2
Krumholz, A1
Holtzman, NA1
Kaufman, S1
Watts, RW1
Chalmers, RA1
Lawson, AM1
Danks, DM1
Cotton, RG1
Schlesinger, P1
Moskowitz, MA1
Wurtman, RJ1
Lou, HC3
Güttler, F2
Lykkelund, C3
Bruhn, P2
Niederwieser, A3
Guardamagna, O2
Ferraris, S1
Biasetti, S1
Bracco, G1
Gerdes, AM2
Udesen, H1
Nielsen, JB1
Rasmussen, V1
Christensen, E1
Curtius, HC3
Kierat, L1
Leimbacher, W1
Binkert, F1
Lehmann, H1
Leupold, D1
Baerlocher, K1
Völlmin, JA2
Rampini, S1
Bosshard, HR1
Müller, M1

Reviews

1 review available for homovanillic acid and Phenylketonurias

ArticleYear
Catecholamines and neurologic diseases (second of two parts).
    The New England journal of medicine, 1975, Aug-14, Volume: 293, Issue:7

    Topics: Animals; Attention Deficit Disorder with Hyperactivity; Brain; Brain Diseases; Catecholamines; Cereb

1975

Trials

1 trial available for homovanillic acid and Phenylketonurias

ArticleYear
Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria.
    Acta paediatrica Scandinavica, 1987, Volume: 76, Issue:4

    Topics: Adolescent; Adult; Arousal; Clinical Trials as Topic; Dopamine; Double-Blind Method; Female; Homovan

1987

Other Studies

21 other studies available for homovanillic acid and Phenylketonurias

ArticleYear
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.
    Brain & development, 2023, Volume: 45, Issue:9

    Topics: Autism Spectrum Disorder; Biopterins; Homovanillic Acid; Humans; Infant, Newborn; Male; Movement Dis

2023
Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.
    Molecular genetics and metabolism, 2020, Volume: 131, Issue:4

    Topics: Adolescent; Adult; Biopterins; Child; Child, Preschool; Female; Homovanillic Acid; Humans; Indoles;

2020
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:3

    Topics: Adult; Atrophy; Biogenic Amines; Case-Control Studies; Female; Gray Matter; Homovanillic Acid; Human

2019
High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).
    Molecular genetics and metabolism, 2016, Volume: 117, Issue:1

    Topics: Administration, Oral; Animals; Biopterins; Brain; Disease Models, Animal; Dopamine; Genotype; Homova

2016
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
    Molecular genetics and metabolism, 2008, Volume: 93, Issue:3

    Topics: Adolescent; Adult; Biopterins; Child; Dihydropteridine Reductase; Female; Follow-Up Studies; Homovan

2008
[Malignant phenylketonuria caused by biopterin synthetase deficiency. Study of neuromediator catabolites in the cerebrospinal fluid during treatment].
    Archives francaises de pediatrie, 1984, Volume: 41, Issue:1

    Topics: Alcohol Oxidoreductases; Biopterins; Carbidopa; Follow-Up Studies; Homovanillic Acid; Humans; Hydrox

1984
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.
    Advances in experimental medicine and biology, 1993, Volume: 338

    Topics: Adolescent; Biopterins; Child; Child, Preschool; Consanguinity; Female; Homovanillic Acid; Humans; H

1993
An animal model of early-treated PKU.
    The Journal of neuroscience : the official journal of the Society for Neuroscience, 1994, Volume: 14, Issue:5 Pt 2

    Topics: Animals; Animals, Newborn; Behavior, Animal; Disease Models, Animal; Drug Therapy, Combination; Fetu

1994
Dihydropteridine reductase deficiency localized to the central nervous system.
    Journal of inherited metabolic disease, 1998, Volume: 21, Issue:4

    Topics: Biopterins; Central Nervous System; Child; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male

1998
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria.
    Neuroreport, 2000, Apr-27, Volume: 11, Issue:6

    Topics: 3,4-Dihydroxyphenylacetic Acid; Amygdala; Animals; Biogenic Monoamines; Brain; Caudate Nucleus; Dise

2000
Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment.
    Journal of inherited metabolic disease, 2000, Volume: 23, Issue:4

    Topics: Adolescent; Adult; Aspartic Acid; Child; Dipeptides; Dopamine; Female; Homovanillic Acid; Humans; Hy

2000
Biogenic amine synthesis defect in dihydropteridine reductase deficiency.
    Science (New York, N.Y.), 1977, Nov-04, Volume: 198, Issue:4316

    Topics: 5-Hydroxytryptophan; Biogenic Amines; Carbidopa; Dopamine; Homovanillic Acid; Humans; Hydroxyindolea

1977
A disorder of biogenic amines in dihydropteridine reductase deficiency.
    Annals of neurology, 1978, Volume: 3, Issue:3

    Topics: 5-Hydroxytryptophan; Biogenic Amines; Brain; Child, Preschool; Homovanillic Acid; Humans; Hydroxyind

1978
Abnormal organic acidurias in mentally retarded patients.
    Lancet (London, England), 1975, Feb-15, Volume: 1, Issue:7903

    Topics: Acidosis; Acids; Adult; Benzoates; Child; Chromatography, Gas; Citrates; Female; Glycolates; Homovan

1975
Letter: Variant forms of phenylketonuria.
    Lancet (London, England), 1976, Jun-05, Volume: 1, Issue:7971

    Topics: Biopterins; Catecholamines; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Infant; Infant, New

1976
Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents.
    European journal of pediatrics, 1985, Volume: 144, Issue:1

    Topics: Adolescent; Adult; Amino Acids; Arousal; Dopamine; Female; Homovanillic Acid; Humans; Hydroxyindolea

1985
Neurotransmitter therapy and diet in malignant phenylketonuria.
    European journal of pediatrics, 1987, Volume: 146, Issue:1

    Topics: 5-Hydroxytryptophan; Carbidopa; Combined Modality Therapy; Female; Homovanillic Acid; Humans; Hydrox

1987
Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine.
    European journal of pediatrics, 1988, Volume: 148, Issue:3

    Topics: Adolescent; Adult; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male; Neurotransmitt

1988
Prenatal diagnosis of atypical phenylketonuria.
    Journal of inherited metabolic disease, 1989, Volume: 12 Suppl 2

    Topics: Amniocentesis; Amniotic Fluid; Biomarkers; Chromatography, High Pressure Liquid; Female; Genetic Car

1989
Pathogenesis of phenylketonuria: inhibition of DOPA and catecholamine synthesis in patients with phenylketonuria.
    Clinica chimica acta; international journal of clinical chemistry, 1972, Volume: 42, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Catecholamines; Catechols; Child; Child, Preschool; Deuterium;

1972
Aromatic acids in urine of healthy infants, persistent hyperphenylalaninemia, and phenylketonuria, before and after phenylalanine load.
    Pediatric research, 1974, Volume: 8, Issue:7

    Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography,

1974