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).
Excerpt | Relevance | Reference |
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"Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia." | 3.96 | Retrospective 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." | 2.66 | Increased 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." | 1.51 | Cerebrospinal 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." | 1.35 | Outcome 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." | 1.27 | Increased 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." | 1.26 | Biogenic amine synthesis defect in dihydropteridine reductase deficiency. ( Butler, IJ; Koslow, SH, 1977) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 13 (56.52) | 18.7374 |
1990's | 3 (13.04) | 18.2507 |
2000's | 3 (13.04) | 29.6817 |
2010's | 2 (8.70) | 24.3611 |
2020's | 2 (8.70) | 2.80 |
Authors | Studies |
---|---|
Wong, RSH | 1 |
Mohammad, S | 1 |
Parayil Sankaran, B | 1 |
Junek, R | 1 |
Kim, WT | 1 |
Wotton, T | 1 |
Devanapalli, B | 1 |
Bandodkar, S | 1 |
Balasubramaniam, S | 1 |
Manzoni, F | 1 |
Salvatici, E | 1 |
Burlina, A | 1 |
Andrews, A | 1 |
Pasquali, M | 1 |
Longo, N | 1 |
Pilotto, A | 1 |
Blau, N | 5 |
Leks, E | 1 |
Schulte, C | 1 |
Deuschl, C | 1 |
Zipser, C | 1 |
Piel, D | 1 |
Freisinger, P | 1 |
Gramer, G | 1 |
Kölker, S | 1 |
Haas, D | 1 |
Burgard, P | 1 |
Nawroth, P | 1 |
Georg, H | 1 |
Scheffler, K | 1 |
Berg, D | 1 |
Trefz, F | 1 |
Winn, SR | 1 |
Scherer, T | 1 |
Thöny, B | 2 |
Harding, CO | 1 |
Jäggi, L | 1 |
Zurflüh, MR | 1 |
Schuler, A | 1 |
Ponzone, A | 2 |
Porta, F | 1 |
Fiori, L | 1 |
Giovannini, M | 1 |
Santer, R | 1 |
Hoffmann, GF | 1 |
Ibel, H | 1 |
Wendel, U | 1 |
Ballhausen, D | 1 |
Baumgartner, MR | 1 |
Malpuech, G | 1 |
Guyon, A | 1 |
Demeocq, F | 1 |
Piton, A | 1 |
Boespflug, O | 1 |
Vanlieferinghen, P | 1 |
de Almeida, IT | 1 |
Leandro, PP | 1 |
Portela, R | 1 |
Cabral, A | 1 |
Eusébio, F | 1 |
Tasso, T | 1 |
Matasovic, A | 2 |
Diamond, A | 1 |
Ciaramitaro, V | 1 |
Donner, E | 1 |
Djali, S | 1 |
Robinson, MB | 1 |
Renneberg, A | 1 |
Arnold, LA | 1 |
Hyland, K | 1 |
Puglisi-Allegra, S | 1 |
Cabib, S | 1 |
Pascucci, T | 1 |
Ventura, R | 1 |
Cali, F | 1 |
Romano, V | 1 |
Burlina, AB | 1 |
Bonafé, L | 1 |
Ferrari, V | 1 |
Suppiej, A | 1 |
Zacchello, F | 1 |
Burlina, AP | 1 |
Koslow, SH | 2 |
Butler, IJ | 2 |
Krumholz, A | 1 |
Holtzman, NA | 1 |
Kaufman, S | 1 |
Watts, RW | 1 |
Chalmers, RA | 1 |
Lawson, AM | 1 |
Danks, DM | 1 |
Cotton, RG | 1 |
Schlesinger, P | 1 |
Moskowitz, MA | 1 |
Wurtman, RJ | 1 |
Lou, HC | 3 |
Güttler, F | 2 |
Lykkelund, C | 3 |
Bruhn, P | 2 |
Niederwieser, A | 3 |
Guardamagna, O | 2 |
Ferraris, S | 1 |
Biasetti, S | 1 |
Bracco, G | 1 |
Gerdes, AM | 2 |
Udesen, H | 1 |
Nielsen, JB | 1 |
Rasmussen, V | 1 |
Christensen, E | 1 |
Curtius, HC | 3 |
Kierat, L | 1 |
Leimbacher, W | 1 |
Binkert, F | 1 |
Lehmann, H | 1 |
Leupold, D | 1 |
Baerlocher, K | 1 |
Völlmin, JA | 2 |
Rampini, S | 1 |
Bosshard, HR | 1 |
Müller, M | 1 |
1 review available for homovanillic acid and Phenylketonurias
Article | Year |
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Catecholamines and neurologic diseases (second of two parts).
Topics: Animals; Attention Deficit Disorder with Hyperactivity; Brain; Brain Diseases; Catecholamines; Cereb | 1975 |
1 trial available for homovanillic acid and Phenylketonurias
Article | Year |
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Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria.
Topics: Adolescent; Adult; Arousal; Clinical Trials as Topic; Dopamine; Double-Blind Method; Female; Homovan | 1987 |
21 other studies available for homovanillic acid and Phenylketonurias
Article | Year |
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Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach.
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.
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.
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).
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.
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].
Topics: Alcohol Oxidoreductases; Biopterins; Carbidopa; Follow-Up Studies; Homovanillic Acid; Humans; Hydrox | 1984 |
Tetrahydrobiopterin deficiency in Portugal: results of the screening for hyperphenylalaninemia.
Topics: Adolescent; Biopterins; Child; Child, Preschool; Consanguinity; Female; Homovanillic Acid; Humans; H | 1993 |
An animal model of early-treated PKU.
Topics: Animals; Animals, Newborn; Behavior, Animal; Disease Models, Animal; Drug Therapy, Combination; Fetu | 1994 |
Dihydropteridine reductase deficiency localized to the central nervous system.
Topics: Biopterins; Central Nervous System; Child; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male | 1998 |
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria.
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.
Topics: Adolescent; Adult; Aspartic Acid; Child; Dipeptides; Dopamine; Female; Homovanillic Acid; Humans; Hy | 2000 |
Biogenic amine synthesis defect in dihydropteridine reductase deficiency.
Topics: 5-Hydroxytryptophan; Biogenic Amines; Carbidopa; Dopamine; Homovanillic Acid; Humans; Hydroxyindolea | 1977 |
A disorder of biogenic amines in dihydropteridine reductase deficiency.
Topics: 5-Hydroxytryptophan; Biogenic Amines; Brain; Child, Preschool; Homovanillic Acid; Humans; Hydroxyind | 1978 |
Abnormal organic acidurias in mentally retarded patients.
Topics: Acidosis; Acids; Adult; Benzoates; Child; Chromatography, Gas; Citrates; Female; Glycolates; Homovan | 1975 |
Letter: Variant forms of phenylketonuria.
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.
Topics: Adolescent; Adult; Amino Acids; Arousal; Dopamine; Female; Homovanillic Acid; Humans; Hydroxyindolea | 1985 |
Neurotransmitter therapy and diet in malignant phenylketonuria.
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.
Topics: Adolescent; Adult; Female; Homovanillic Acid; Humans; Hydroxyindoleacetic Acid; Male; Neurotransmitt | 1988 |
Prenatal diagnosis of atypical phenylketonuria.
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.
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.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Chromatography, | 1974 |