Medical Subject Headings

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/MESH/D020176
http://purl.bioontology.org/ontology/MESH/D020176
Preferred Name

Tyrosinemias

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