Engelsk definition
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)
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
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