Related MeSH Hierarchy (6)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Tyrosinemias
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors » Tyrosinemias
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Tyrosinemias
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Tyrosinemias
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors » Tyrosinemias
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Tyrosinemias
Description
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) MeSH
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Approved Indicated Drugs (1)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (2)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (2)
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UMLS Data
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