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