Tyrosinemias

Overview

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Is a:

Disease or Syndrome

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 mental retardation, 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 mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE dioxygenase. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)

Synonyms:

4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
Deficiency Disease, Fumarylacetoacetase
Deficiency Disease, Tyrosine Transaminase
Deficiency Diseases, Fumarylacetoacetase
Disease, Fumarylacetoacetase Deficiency
Diseases, Fumarylacetoacetase Deficiency
Fumarylacetoacetase Deficiency Disease
Fumarylacetoacetase Deficiency Diseases
Hereditary Tyrosinemia
Hereditary Tyrosinemia, Type I
Hereditary Tyrosinemia, Type II
Hereditary Tyrosinemia, Type III
Hereditary Tyrosinemias
Hypertyrosinemia, Type I
Hypertyrosinemias, Type I
Type I Hypertyrosinemia
Type I Hypertyrosinemias
Type I Tyrosinemia
Type I Tyrosinemias
Type II Tyrosinemia
Type II Tyrosinemias
Type III Tyrosinemia
Type III Tyrosinemias
Tyrosine Transaminase Deficiency Disease
Tyrosinemia
Tyrosinemia, Hereditary
Tyrosinemia, Type I
Tyrosinemia, Type II
Tyrosinemia, Type III
Tyrosinemias, Hereditary
Tyrosinemias, Type I
Tyrosinemias, Type II
Tyrosinemias, Type III

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