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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Tyrosinemias
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Tyrosinemias
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Tyrosinemias
Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Tyrosinemias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Tyrosinemias
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Tyrosinemias

Käytettävä termi

Tyrosinemias  

Tyyppi

  • Topical Descriptor

Yläkäsite

Assosiatiiviset käsitteet

Ohjaustermit

  • Hereditary Tyrosinemia
  • Hereditary Tyrosinemias
  • Hypertyrosinemia
  • Tyrosinemia
  • Tyrosinemia, Hereditary
  • Tyrosinemias, Hereditary

Huomautus

  • note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic

Käyttöhuomautus

  • 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)

Huomautus muutoshistoriasta

  • 2000

Muunkieliset termit

  • Tyrosinemier

    ruotsi

  • tyrosinemiat

    suomi

  • 4-hydroksifenylipyruvaattidioksigenaasin puute
  • fumaryyliasetoasetaasin puute
  • tyrosiinitransaminaasin puute
  • tyrosinaemia
  • tyrosinemia

URI

http://www.yso.fi/onto/mesh/D020176

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