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Synonyms English:
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2 Tyrosinemias, Type
4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase
Deficiencies, Fumarylacetoacetase
Deficiencies, Tat
Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
Deficiency Disease, Fumarylacetoacetase
Deficiency Disease, Tyrosine Transaminase
Deficiency Diseases, Fumarylacetoacetase
Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase
Deficiency, Fumarylacetoacetase
Deficiency, Tat
Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate
Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate
Disease, Fumarylacetoacetase Deficiency
Diseases, Fumarylacetoacetase Deficiency
Fumarylacetoacetase Deficiencies
Fumarylacetoacetase Deficiency
Fumarylacetoacetase Deficiency Disease
Fumarylacetoacetase Deficiency Diseases
Hepatorenal Tyrosinemia
Hepatorenal Tyrosinemias
Hereditary Tyrosinemia
Hereditary Tyrosinemia, Type I
Hereditary Tyrosinemia, Type II
Hereditary Tyrosinemia, Type III
Hereditary Tyrosinemias
Hypertyrosinemia
Hypertyrosinemia, Type I
Hypertyrosinemias, Type I
Keratosis Palmoplantaris with Corneal Dystrophy
Oculocutaneous Type Tyrosinoses
Oculocutaneous Type Tyrosinosis
Oregon Type Tyrosinemia
Richner Hanhart Syndrome
Richner-Hanhart Syndrome
Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type
Richner-Hanhart Syndromes
Syndrome, Richner-Hanhart
Syndromes, Richner-Hanhart
Tat Deficiencies
Tat Deficiency
Type 2 Tyrosinemia
Type 2 Tyrosinemias
Type I Hypertyrosinemia
Type I Hypertyrosinemias
Type I Tyrosinemia
Type I Tyrosinemias
Type II Tyrosinemia
Type II Tyrosinemias
Type III Tyrosinemia
Type III Tyrosinemias
Type Tyrosinoses, Oculocutaneous
Type Tyrosinosis, Oculocutaneous
Tyrosine Aminotransferase Deficiency
Tyrosine Transaminase Deficiency
Tyrosine Transaminase Deficiency Disease
Tyrosinemia
Tyrosinemia Type 1
Tyrosinemia Type 1s
Tyrosinemia, Hepatorenal
Tyrosinemia, Hereditary
Tyrosinemia, Type 2
Tyrosinemia, Type I
Tyrosinemia, Type II
Tyrosinemia, Type III
Tyrosinemias, Hepatorenal
Tyrosinemias, Hereditary
Tyrosinemias, Type 2
Tyrosinemias, Type I
Tyrosinemias, Type II
Tyrosinemias, Type III
Tyrosinoses, Oculocutaneous Type
Tyrosinosis, Oculocutaneous Type
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Definition English:
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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) |