homogentisic acid has been researched along with Tyrosinemias in 9 studies
Homogentisic Acid: Dihydroxyphenylacetic acid with hydroxyls at the 2 and 5 positions of the phenyl ring.
homogentisic acid : A dihydroxyphenylacetic acid having the two hydroxy substituents at the 2- and 5-positions.
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 |
|---|---|---|
| "Alkaptonuria (AKU) is an ultra-rare inherited inborn error of metabolism that afflicts the tyrosine metabolic pathway, resulting in the accumulation of homogentisic acid (HGA) in the circulation, and significant excretion in urine." | 5.41 | Alkaptonuria - Past, present and future. ( Davison, AS; Norman, BP, 2023) |
| " 203500) is a rare, slow-progressing, irreversible, multisystemic disease resulting from a deficiency of the homogentisate 1,2-dioxygenase enzyme, which leads to the accumulation of homogentisic acid (HGA) and subsequent deposition as pigment in connective tissues called ochronosis." | 4.31 | Nutritional interventions for patients with alkaptonuria: A minireview. ( Havranova, A; Imrich, R; Lukacova, O; Penesova, A; Radikova, Z; Ranganath, L; Sedlakova, J; Vlcek, M; Zanova, E; Zatkova, A, 2023) |
| " Similarly, Fah(-/-) animals with liver injury were also resistant to apoptosis induced by the Fas ligand Jo-2 and to necrosis-like cell death induced by acetaminophen (APAP)." | 3.72 | Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death. ( Al-Dhalimy, M; Finegold, M; Grompe, M; Groopman, J; Iordanov, MS; Ou, CN; Ryabinina, O; van Den Berg, IE; Vogel, A, 2004) |
| "In contrast, hereditary tyrosinemia type 1, a genetic disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH), induces severe visceral injuries." | 2.42 | Animal models reveal pathophysiologies of tyrosinemias. ( Endo, F; Nakamura, K; Tanaka, Y; Tanoue, A; Tomoeda, K; Tsujimoto, G, 2003) |
| "Children with hereditary tyrosinemia type 1 (HT1) suffer from liver failure, renal tubular dysfunction, and rickets." | 1.33 | Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity. ( Berger, R; Jacobs, SM; Klomp, LW; van Beurden, DH; van den Berg, IE, 2006) |
| "Hereditary tyrosinemia I (HT I) is a genetic disorder of tyrosine metabolism caused by abnormalities of fumarylacetoacetate hydrolase." | 1.33 | Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays. ( Endo, F; Kimoto, Y; Matsumoto, S; Nakamura, K; Tanaka, Y; Tanoue, A; Tsujimoto, G, 2006) |
| "Hereditary tyrosinemia type 1 (HT1), which is associated with severe liver and kidney damage, is caused by deficiency of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine breakdown cascade." | 1.32 | Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1. ( Berger, R; Grompe, M; Jacobs, SM; Klomp, LW; Luijerink, MC; Malingré, HE; van Beurden, EA; van den Berg, IE, 2004) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 5 (55.56) | 29.6817 |
| 2010's | 1 (11.11) | 24.3611 |
| 2020's | 3 (33.33) | 2.80 |
| Authors | Studies |
|---|---|
| Ranganath, LR | 1 |
| Milan, AM | 1 |
| Hughes, AT | 1 |
| Davison, AS | 2 |
| M, K | 1 |
| Norman, BP | 2 |
| Bou-Gharios, G | 1 |
| Gallagher, JA | 1 |
| Imrich, R | 2 |
| Arnoux, JB | 1 |
| Rudebeck, M | 1 |
| Olsson, B | 1 |
| Zatkova, A | 1 |
| Lukacova, O | 1 |
| Sedlakova, J | 1 |
| Zanova, E | 1 |
| Vlcek, M | 1 |
| Penesova, A | 1 |
| Radikova, Z | 1 |
| Havranova, A | 1 |
| Ranganath, L | 1 |
| Adam, D | 1 |
| Endo, F | 2 |
| Tanaka, Y | 2 |
| Tomoeda, K | 1 |
| Tanoue, A | 2 |
| Tsujimoto, G | 2 |
| Nakamura, K | 2 |
| Vogel, A | 1 |
| van Den Berg, IE | 3 |
| Al-Dhalimy, M | 1 |
| Groopman, J | 1 |
| Ou, CN | 1 |
| Ryabinina, O | 1 |
| Iordanov, MS | 1 |
| Finegold, M | 1 |
| Grompe, M | 2 |
| Luijerink, MC | 1 |
| van Beurden, EA | 1 |
| Malingré, HE | 1 |
| Jacobs, SM | 2 |
| Klomp, LW | 2 |
| Berger, R | 2 |
| van Beurden, DH | 1 |
| Matsumoto, S | 1 |
| Kimoto, Y | 1 |
2 reviews available for homogentisic acid and Tyrosinemias
| Article | Year |
|---|---|
Alkaptonuria - Past, present and future.
Topics: Alkaptonuria; Animals; Homogentisic Acid; Humans; Mice; Quality of Life; Tyrosine; Tyrosinemias | 2023 |
Animal models reveal pathophysiologies of tyrosinemias.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Animals; Disease Models, Animal; Gene Expression; Homogentisic | 2003 |
7 other studies available for homogentisic acid and Tyrosinemias
| Article | Year |
|---|---|
Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.
Topics: Alkaptonuria; Brain Diseases, Metabolic, Inborn; Cyclohexanones; Homogentisic Acid; Humans; Nitroben | 2022 |
Nutritional interventions for patients with alkaptonuria: A minireview.
Topics: Alkaptonuria; Homogentisic Acid; Humans; Ochronosis; Tyrosine; Tyrosinemias | 2023 |
A father's fight to help his sons - and fix clinical trials.
Topics: Adolescent; Alkaptonuria; Animals; Autopsy; Child; Clinical Trials as Topic; Compassionate Use Trial | 2019 |
Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death.
Topics: Acetaminophen; Analgesics, Non-Narcotic; Animals; Apoptosis; Cell Survival; Central Nervous System D | 2004 |
Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1.
Topics: Animals; Caspase 3; Caspase 9; Caspases; Cyclohexanones; Disease Models, Animal; DNA Fragmentation; | 2004 |
Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity.
Topics: 4-Hydroxyphenylpyruvate Dioxygenase; Animals; Cyclohexanones; Enzyme Inhibitors; Female; Homogentisi | 2006 |
Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays.
Topics: Animals; Apoptosis; Caspases; Down-Regulation; Female; Gene Expression Profiling; Homogentisate 1,2- | 2006 |