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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)

Year introduced: 2000

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Subheadings:

Tree 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

MeSH Unique ID: D020176

Entry Terms:

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