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)

Descriptor ID	D020176
MeSH 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
Concept/Terms	Tyrosinemias Tyrosinemias Hypertyrosinemia Hereditary Tyrosinemias Tyrosinemias, Hereditary Hereditary Tyrosinemia Tyrosinemia, Hereditary Tyrosinemia Tyrosinemia, Type III 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 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 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

Below are MeSH descriptors whose meaning is more general than "Tyrosinemias".

Below are MeSH descriptors whose meaning is related to "Tyrosinemias".

Below are MeSH descriptors whose meaning is more specific than "Tyrosinemias".