Tyrosinemias
"Tyrosinemias" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D020176
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MeSH Number(s) |
C10.228.140.163.100.875 C16.320.565.100.880 C16.320.565.189.875 C18.452.132.100.875 C18.452.648.100.880 C18.452.648.189.875
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Concept/Terms |
Tyrosinemias- Tyrosinemias
- Hypertyrosinemia
- Hereditary Tyrosinemias
- Tyrosinemias, Hereditary
- Hereditary Tyrosinemia
- Tyrosinemia, Hereditary
- Tyrosinemia
Tyrosinemia, Type III- Tyrosinemia, Type III
- Type III Tyrosinemia
- Type III Tyrosinemias
- Tyrosinemias, Type III
- Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
- Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
- 4-Hydroxyphenylpyruvate Dioxygenase Deficiency
- Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase
- Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase
- Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate
- Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate
- 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
- 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
- 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
- 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
- Hereditary Tyrosinemia, Type III
Tyrosinemia, Type I- Tyrosinemia, Type I
- Type I Tyrosinemia
- Type I Tyrosinemias
- Tyrosinemias, Type I
- Fumarylacetoacetase Deficiency Disease
- Fumarylacetoacetase Deficiency
- Deficiencies, Fumarylacetoacetase
- Deficiency, Fumarylacetoacetase
- Fumarylacetoacetase Deficiencies
- Hypertyrosinemia, Type I
- Hypertyrosinemias, Type I
- Type I Hypertyrosinemia
- Type I Hypertyrosinemias
- Tyrosinemia Type 1
- Tyrosinemia Type 1s
- Hepatorenal Tyrosinemia
- Hepatorenal Tyrosinemias
- Tyrosinemia, Hepatorenal
- Tyrosinemias, Hepatorenal
- Hereditary Tyrosinemia, Type I
- Deficiency Disease, Fumarylacetoacetase
- Deficiency Diseases, Fumarylacetoacetase
- Disease, Fumarylacetoacetase Deficiency
- Diseases, Fumarylacetoacetase Deficiency
- Fumarylacetoacetase Deficiency Diseases
Tyrosinemia, Type II- Tyrosinemia, Type II
- Type II Tyrosinemia
- Type II Tyrosinemias
- Tyrosinemias, Type II
- Deficiency Disease, Tyrosine Transaminase
- Hereditary Tyrosinemia, Type II
- Richner-Hanhart Syndrome
- Richner Hanhart Syndrome
- Richner-Hanhart Syndromes
- Syndrome, Richner-Hanhart
- Syndromes, Richner-Hanhart
- Tat Deficiency
- Deficiencies, Tat
- Deficiency, Tat
- Tat Deficiencies
- Tyrosinemia, Type 2
- 2 Tyrosinemias, Type
- Type 2 Tyrosinemia
- Type 2 Tyrosinemias
- Tyrosinemias, Type 2
- Tyrosine Transaminase Deficiency
- Keratosis Palmoplantaris with Corneal Dystrophy
- Oregon Type Tyrosinemia
- Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type
- Tyrosine Aminotransferase Deficiency
- Tyrosine Transaminase Deficiency Disease
- Tyrosinosis, Oculocutaneous Type
- Oculocutaneous Type Tyrosinoses
- Oculocutaneous Type Tyrosinosis
- Type Tyrosinoses, Oculocutaneous
- Type Tyrosinosis, Oculocutaneous
- Tyrosinoses, Oculocutaneous Type
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Below are MeSH descriptors whose meaning is more general than "Tyrosinemias".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Tyrosinemias [C10.228.140.163.100.875]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Tyrosinemias [C16.320.565.100.880]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Tyrosinemias [C16.320.565.189.875]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Tyrosinemias [C18.452.132.100.875]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Tyrosinemias [C18.452.648.100.880]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Tyrosinemias [C18.452.648.189.875]
Below are MeSH descriptors whose meaning is more specific than "Tyrosinemias".
This graph shows the total number of publications written about "Tyrosinemias" by people in this website by year, and whether "Tyrosinemias" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
Year | Major Topic | Minor Topic | Total |
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2011 | 1 | 0 | 1 |
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Below are the most recent publications written about "Tyrosinemias" by people in Profiles.
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Nicolas CT, Hickey RD, Allen KL, Du Z, Guthman RM, Kaiser RA, Amiot B, Bansal A, Pandey MK, Suksanpaisan L, DeGrado TR, Nyberg SL, Lillegard JB. Hepatocyte spheroids as an alternative to single cells for transplantation after ex vivo gene therapy in mice and pig models. Surgery. 2018 09; 164(3):473-481.
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Hickey RD, Mao SA, Glorioso J, Elgilani F, Amiot B, Chen H, Rinaldo P, Marler R, Jiang H, DeGrado TR, Suksanpaisan L, O'Connor MK, Freeman BL, Ibrahim SH, Peng KW, Harding CO, Ho CS, Grompe M, Ikeda Y, Lillegard JB, Russell SJ, Nyberg SL. Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. Sci Transl Med. 2016 07 27; 8(349):349ra99.
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Arnon R, Annunziato R, Miloh T, Wasserstein M, Sogawa H, Wilson M, Suchy F, Kerkar N. Liver transplantation for hereditary tyrosinemia type I: analysis of the UNOS database. Pediatr Transplant. 2011 Jun; 15(4):400-5.
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Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab. 2006 May; 88(1):16-21.
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