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
- Tyrosinemia
- Tyrosinemias, Hereditary
- Hereditary Tyrosinemia
- Hereditary Tyrosinemias
- Tyrosinemia, Hereditary
Tyrosinemia, Type II- Tyrosinemia, Type II
- Type II Tyrosinemia
- Type II Tyrosinemias
- Tyrosinemias, Type II
- Deficiency Disease, Tyrosine Transaminase
- Hereditary Tyrosinemia, Type II
- Tyrosine Transaminase Deficiency Disease
Tyrosinemia, Type III- Tyrosinemia, Type III
- Type III Tyrosinemia
- Type III Tyrosinemias
- Tyrosinemias, Type III
- Hereditary Tyrosinemia, Type III
- Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
- Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
- 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
- 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
- 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
Tyrosinemia, Type I- Tyrosinemia, Type I
- Type I Tyrosinemia
- Type I Tyrosinemias
- Tyrosinemias, Type I
- Fumarylacetoacetase Deficiency
- Deficiencies, Fumarylacetoacetase
- Deficiency, Fumarylacetoacetase
- Fumarylacetoacetase Deficiencies
- Tyrosinemia Type 1
- Tyrosinemia Type 1s
- Hepatorenal Tyrosinemia
- Hepatorenal Tyrosinemias
- Tyrosinemia, Hepatorenal
- Tyrosinemias, Hepatorenal
- Hereditary Tyrosinemia, Type I
- Hypertyrosinemia, Type I
- Hypertyrosinemias, Type I
- Type I Hypertyrosinemia
- Type I Hypertyrosinemias
- Deficiency Disease, Fumarylacetoacetase
- Deficiency Diseases, Fumarylacetoacetase
- Disease, Fumarylacetoacetase Deficiency
- Diseases, Fumarylacetoacetase Deficiency
- Fumarylacetoacetase Deficiency Diseases
- Fumarylacetoacetase Deficiency Disease
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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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2001 | 1 | 0 | 1 |
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Below are the most recent publications written about "Tyrosinemias" by people in Profiles.
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Macsai MS, Schwartz TL, Hinkle D, Hummel MB, Mulhern MG, Rootman D. Tyrosinemia type II: nine cases of ocular signs and symptoms. Am J Ophthalmol. 2001 Oct; 132(4):522-7.
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