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, 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 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

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)