4-hydroxyphenylpyruvic acid has been researched along with Tyrosinemias in 5 studies
4-hydroxyphenylpyruvic acid: RN given refers to parent cpd
4-hydroxyphenylpyruvic acid : A 2-oxo monocarboxylic acid that is pyruvic acid in which one of the methyl hydrogens is substituted by a 4-hydroxyphenyl group.
Tyrosinemias: A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
| Excerpt | Relevance | Reference |
|---|---|---|
| "The drug nitisinone (NTBC) is used to treat tyrosinemia type I, and more recently has been also used for the treatment of another disorder of tyrosine metabolism, alkaptonuria." | 3.81 | Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. ( Barshop, BA; Gangoiti, JA; Gertsman, I; Nyhan, WL, 2015) |
| "Hereditary tyrosinemia type 1 is an autosomal recessive metabolic disorder, which is caused by a defective fumarylacetoacetate hydrolase enzyme, and consequently metabolites such as succinylacetone and p-hydroxyphenylpyruvate accumulate." | 1.36 | Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways. ( Koekemoer, G; Pretorius, PJ; Steenkamp, A; van Dyk, E, 2010) |
| "Hereditary tyrosinemia type 1 (HT1; MIM 276700) is caused by mutations in the fumarylaceto-acetate hydrolase (FAH) gene, and is the most severe disorder associated with the tyrosine catabolic pathway." | 1.35 | Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1. ( Choi, TY; Ki, CS; Kim, JW; Lee, DH; Lee, YK; Lee, YW; Park, HD, 2009) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 3 (60.00) | 29.6817 |
| 2010's | 2 (40.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Gertsman, I | 1 |
| Gangoiti, JA | 1 |
| Nyhan, WL | 1 |
| Barshop, BA | 1 |
| Park, HD | 1 |
| Lee, DH | 1 |
| Choi, TY | 1 |
| Lee, YK | 1 |
| Kim, JW | 1 |
| Ki, CS | 1 |
| Lee, YW | 1 |
| van Dyk, E | 2 |
| Steenkamp, A | 1 |
| Koekemoer, G | 1 |
| Pretorius, PJ | 2 |
| da Silva Ferreira, ME | 1 |
| Savoldi, M | 1 |
| Sueli Bonato, P | 1 |
| Goldman, MH | 1 |
| Goldman, GH | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Nitisinone (NTBC) In Different Age Groups Of Patients With Alkaptonuria[NCT01390077] | Phase 2/Phase 3 | 8 participants (Actual) | Interventional | 2011-01-31 | Completed | ||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
Urine homogentisic acid (umol/mmol creatinine) (NCT01390077)
Timeframe: 3-6 months
| Intervention | uM (Mean) |
|---|---|
| HGA, Baseline | 1425.9 |
| HGA, 2 mg/d Nitisinone | 113.1 |
| HGA, 4 mg Nitisinone | 34.0 |
Plasma tyrosine (uM) (NCT01390077)
Timeframe: 3-6 months
| Intervention | uM (Mean) |
|---|---|
| Tyrosine, Baseline | 53.1 |
| Tyrosine, 2 mg/d Nitisinone | 668.7 |
| Tyrosine, 4 mg Nitisinone | 703.7 |
5 other studies available for 4-hydroxyphenylpyruvic acid and Tyrosinemias
| Article | Year |
|---|---|
Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome.
Topics: Aldehydes; Alkaptonuria; Cell Line, Tumor; Cyclohexanones; Gastrointestinal Microbiome; Humans; Indo | 2015 |
Clinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.
Topics: Exons; Female; Heptanoates; Humans; Hydrolases; Infant, Newborn; Introns; Phenylpropionates; Phenylp | 2009 |
Hereditary tyrosinemia type 1 metabolites impair DNA excision repair pathways.
Topics: Cell Line; Comet Assay; DNA Repair; Heptanoates; Humans; Hydrogen Peroxide; Phenylpyruvic Acids; Tyr | 2010 |
DNA damage and repair in mammalian cells exposed to p-hydroxyphenylpyruvic acid.
Topics: Animals; Cells, Cultured; DNA Damage; DNA Repair; Dose-Response Relationship, Drug; Hepatocytes; Hum | 2005 |
Fungal metabolic model for tyrosinemia type 3: molecular characterization of a gene encoding a 4-hydroxy-phenyl pyruvate dioxygenase from Aspergillus nidulans.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Aspergillus nidulans; Gene Deletion; Humans; Models, Biological | 2006 |