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)

Also Known As:

Tyrosinemia; Tyrosinemia, Hereditary; 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease; 4-Hydroxyphenylpyruvate Dioxygenase Deficiency; 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency; Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase; Deficiency Disease, Fumarylacetoacetase; Deficiency Disease, Tyrosine Transaminase; Fumarylacetoacetase Deficiency; Hepatorenal Tyrosinemia; Hereditary Tyrosinemia, Type I; Hereditary Tyrosinemia, Type II; Hereditary Tyrosinemia, Type III; Hereditary Tyrosinemias; Hypertyrosinemia; Hypertyrosinemia, Type I; Keratosis Palmoplantaris with Corneal Dystrophy; Oregon Type Tyrosinemia; Richner-Hanhart Syndrome; Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type; Tat Deficiency; Tyrosine Aminotransferase Deficiency; Tyrosine Transaminase Deficiency; Tyrosinemia Type 1; Tyrosinemia, Type 2; Tyrosinemia, Type I; Tyrosinemia, Type II; Tyrosinemia, Type III; Tyrosinemias, Hereditary; Tyrosinosis, Oculocutaneous Type; 2 Tyrosinemias, Type; 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease; Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase; Deficiencies, Fumarylacetoacetase; Deficiencies, Tat; Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase; Deficiency Diseases, Fumarylacetoacetase; Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase; Deficiency, Fumarylacetoacetase; Deficiency, Tat; Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate; Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate; Disease, Fumarylacetoacetase Deficiency; Diseases, Fumarylacetoacetase Deficiency; Fumarylacetoacetase Deficiencies; Fumarylacetoacetase Deficiency Diseases; Hepatorenal Tyrosinemias; Hereditary Tyrosinemia; Hypertyrosinemias, Type I; Oculocutaneous Type Tyrosinoses; Oculocutaneous Type Tyrosinosis; Richner Hanhart Syndrome; Richner-Hanhart Syndromes; Syndrome, Richner-Hanhart; Syndromes, Richner-Hanhart; Tat Deficiencies; Type 2 Tyrosinemia; Type 2 Tyrosinemias; Type I Hypertyrosinemia; Type I Hypertyrosinemias; Type I Tyrosinemia; Type I Tyrosinemias; Type II Tyrosinemia; Type II Tyrosinemias; Type III Tyrosinemia; Type III Tyrosinemias; Type Tyrosinoses, Oculocutaneous; Type Tyrosinosis, Oculocutaneous; Tyrosinemia Type 1s; Tyrosinemia, Hepatorenal; Tyrosinemias, Hepatorenal; Tyrosinemias, Type 2; Tyrosinemias, Type I; Tyrosinemias, Type II; Tyrosinemias, Type III; Tyrosinoses, Oculocutaneous Type; 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease; Fumarylacetoacetase Deficiency Disease; Tyrosine Transaminase Deficiency Disease

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Tyrosinemias: 725
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Tyrosinemias: 725
    - Inborn Errors Amino Acid Metabolism: 1
      - Tyrosinemias: 725
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Metabolic Brain Diseases: 2
      - Tyrosinemias: 725
    - Inborn Errors Amino Acid Metabolism: 1
      - Tyrosinemias: 725
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Tyrosinemias: 725

Ellen A C M van Beurden Selected Research

Ellen A C M van Beurden Research Topics

Disease

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