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Disease Tyrosinemias

Name Tyrosinemias
Synonyms 2 Tyrosinemias, Type | 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease | 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease | 4-Hydroxyphenylpyruvate Dioxygenase Deficiency | 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease | 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency | Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase | Deficiencies, Fumarylacetoacetase | Deficiencies, Tat | Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase | Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase | Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase | Deficiency Disease, Fumarylacetoacetase | Deficiency Diseases, Fumarylacetoacetase | Deficiency Disease, Tyrosine Transaminase | Deficiency, Fumarylacetoacetase | Deficiency, Tat | Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate | Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate | Disease, Fumarylacetoacetase Deficiency | Diseases, Fumarylacetoacetase Deficiency | FAH DEFICIENCY | Fumarylacetoacetase Deficiencies | Fumarylacetoacetase Deficiency | Fumarylacetoacetase Deficiency Disease | Fumarylacetoacetase Deficiency Diseases | Hepatorenal Tyrosinemia | Hepatorenal Tyrosinemias | Hereditary Tyrosinemia | Hereditary Tyrosinemias | Hereditary Tyrosinemia, Type I | Hereditary Tyrosinemia, Type II | Hereditary Tyrosinemia, Type III | Hypertyrosinemia | Hypertyrosinemias, Type I | Hypertyrosinemia, Type I | Keratosis Palmoplantaris with Corneal Dystrophy | Oculocutaneous Type Tyrosinoses | Oculocutaneous Type Tyrosinosis | Oregon Type Tyrosinemia | Richner Hanhart Syndrome | Richner-Hanhart Syndrome | Richner-Hanhart Syndromes | Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type | Syndrome, Richner-Hanhart | Syndromes, Richner-Hanhart | Tat Deficiencies | Tat Deficiency | Type 2 Tyrosinemia | Type 2 Tyrosinemias | Type I Hypertyrosinemia | Type I Hypertyrosinemias | Type III Tyrosinemia | Type III Tyrosinemias | Type II Tyrosinemia | Type II Tyrosinemias | Type I Tyrosinemia | Type I Tyrosinemias | Type Tyrosinoses, Oculocutaneous | Type Tyrosinosis, Oculocutaneous | Tyrosine Aminotransferase Deficiency | Tyrosinemia | Tyrosinemia, Hepatorenal | Tyrosinemia, Hereditary | Tyrosinemias, Hepatorenal | Tyrosinemias, Hereditary | Tyrosinemias, Type 2 | Tyrosinemias, Type I | Tyrosinemias, Type II | Tyrosinemias, Type III | Tyrosinemia Type 1 | Tyrosinemia Type 1s | Tyrosinemia, Type 2 | Tyrosinemia, Type I | Tyrosinemia, Type II | Tyrosinemia, Type III | Tyrosine Transaminase Deficiency | Tyrosine Transaminase Deficiency Disease | Tyrosinoses, Oculocutaneous Type | Tyrosinosis, Oculocutaneous Type | TYRSN1 | TYRSN2 | TYRSN3
Definition 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D020176
OMIM® IDs 276600 | 276700 | 276710
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Tyrosinemias Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Tyrosinemias Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Tyrosinemias Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Tyrosinemias Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Tyrosinemias Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Tyrosinemias Has associated chemicals Has associated genes

Top ↑ Descendants

Tyrosinemias Has associated chemicals Has associated genes
  Hawkinsinuria Has associated chemicals Has associated genes