Tyrosinemias
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)
Year introduced: 2000
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Subheadings:
Tree Number(s): C10.228.140.163.100.875, C16.320.565.100.880, C16.320.565.189.875, C18.452.132.100.875, C18.452.648.100.880, C18.452.648.189.875
MeSH Unique ID: D020176
Entry Terms:
- Hypertyrosinemia
- Hereditary Tyrosinemias
- Tyrosinemias, Hereditary
- Hereditary Tyrosinemia
- Tyrosinemia, Hereditary
- Tyrosinemia
- Tyrosinemia, Type III
- Type III Tyrosinemia
- Type III Tyrosinemias
- Tyrosinemias, Type III
- Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
- Deficiency Disease, 4 Hydroxyphenol Pyruvic Acid Oxidase
- 4-Hydroxyphenylpyruvate Dioxygenase Deficiency
- Deficiencies, 4-Hydroxyphenylpyruvate Dioxygenase
- Deficiency, 4-Hydroxyphenylpyruvate Dioxygenase
- Dioxygenase Deficiencies, 4-Hydroxyphenylpyruvate
- Dioxygenase Deficiency, 4-Hydroxyphenylpyruvate
- 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
- 4 Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
- 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
- 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
- Hereditary Tyrosinemia, Type III
- Tyrosinemia, Type I
- Type I Tyrosinemia
- Type I Tyrosinemias
- Tyrosinemias, Type I
- Fumarylacetoacetase Deficiency Disease
- Fumarylacetoacetase Deficiency
- Deficiencies, Fumarylacetoacetase
- Deficiency, Fumarylacetoacetase
- Fumarylacetoacetase Deficiencies
- Hypertyrosinemia, Type I
- Hypertyrosinemias, Type I
- Type I Hypertyrosinemia
- Type I Hypertyrosinemias
- Tyrosinemia Type 1
- Tyrosinemia Type 1s
- Hepatorenal Tyrosinemia
- Hepatorenal Tyrosinemias
- Tyrosinemia, Hepatorenal
- Tyrosinemias, Hepatorenal
- Hereditary Tyrosinemia, Type I
- Deficiency Disease, Fumarylacetoacetase
- Deficiency Diseases, Fumarylacetoacetase
- Disease, Fumarylacetoacetase Deficiency
- Diseases, Fumarylacetoacetase Deficiency
- Fumarylacetoacetase Deficiency Diseases
- Tyrosinemia, Type II
- Type II Tyrosinemia
- Type II Tyrosinemias
- Tyrosinemias, Type II
- Deficiency Disease, Tyrosine Transaminase
- Hereditary Tyrosinemia, Type II
- Richner-Hanhart Syndrome
- Richner Hanhart Syndrome
- Richner-Hanhart Syndromes
- Syndrome, Richner-Hanhart
- Syndromes, Richner-Hanhart
- Tat Deficiency
- Deficiencies, Tat
- Deficiency, Tat
- Tat Deficiencies
- Tyrosinemia, Type 2
- 2 Tyrosinemias, Type
- Type 2 Tyrosinemia
- Type 2 Tyrosinemias
- Tyrosinemias, Type 2
- Tyrosine Transaminase Deficiency
- Keratosis Palmoplantaris with Corneal Dystrophy
- Oregon Type Tyrosinemia
- Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type
- Tyrosine Aminotransferase Deficiency
- Tyrosine Transaminase Deficiency Disease
- Tyrosinosis, Oculocutaneous Type
- Oculocutaneous Type Tyrosinoses
- Oculocutaneous Type Tyrosinosis
- Type Tyrosinoses, Oculocutaneous
- Type Tyrosinosis, Oculocutaneous
- Tyrosinoses, Oculocutaneous Type
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