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
- Hereditary Tyrosinemias
- Hypertyrosinemia
- Tyrosinemias, Hereditary
- Hereditary Tyrosinemia
- Tyrosinemia, Hereditary
Tyrosinemia, Type III- Tyrosinemia, Type III
- Type III Tyrosinemia
- Type III Tyrosinemias
- Tyrosinemias, Type III
- 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
- 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
- Hereditary Tyrosinemia, Type III
- 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
- Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
- Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
- 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
- 4-Hydroxyphenylpyruvate Dioxygenase Deficiency
- Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase
- Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase
- Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate
- Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate
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
Tyrosinemia, Type II- Tyrosinemia, Type II
- Type II Tyrosinemia
- Type II Tyrosinemias
- Tyrosinemias, Type II
- Hereditary Tyrosinemia, Type II
- Keratosis Palmoplantaris with Corneal Dystrophy
- Oregon Type Tyrosinemia
- Richner-Hanhart Syndrome
- Richner Hanhart Syndrome
- Richner-Hanhart Syndromes
- Syndrome, Richner-Hanhart
- Syndromes, Richner-Hanhart
- Tyrosinosis, Oculocutaneous Type
- Oculocutaneous Type Tyrosinoses
- Oculocutaneous Type Tyrosinosis
- Type Tyrosinoses, Oculocutaneous
- Type Tyrosinosis, Oculocutaneous
- Tyrosinoses, Oculocutaneous Type
- Tat Deficiency
- Deficiencies, Tat
- Deficiency, Tat
- Tat Deficiencies
- Tyrosine Aminotransferase Deficiency
- Tyrosine Transaminase Deficiency
- Tyrosine Transaminase Deficiency Disease
- Tyrosinemia, Type 2
- 2 Tyrosinemia, Type
- 2 Tyrosinemias, Type
- Type 2 Tyrosinemia
- Type 2 Tyrosinemias
- Tyrosinemias, Type 2
- Deficiency Disease, Tyrosine Transaminase
- Richner-Hanhart Syndrome, Tyrosinosis, 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".
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