loading...| Preferred Name |
Tyrosinemia |
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| Synonyms |
Tyrosinemias tyrosinemia Hypertyrosinemia Tyrosinaemia Hereditary Tyrosinemia Hereditary Tyrosinemias Tyrosinemias [Disease/Finding] Tyrosinemia (disorder) Tyrosinemias, Hereditary Tyrosinemia, Hereditary |
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| Definitions |
[NCIt Definition]: An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. [MSH 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) [CSP Definition]: Group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. |
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| ID |
http://pat.nichd.nih.gov/maternalconditions/C0268483 |
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| Definition |
[NCIt Definition]: An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. [MSH 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) [CSP Definition]: Group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. |
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| External Source |
https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C0268483 |
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| Label |
Tyrosinemia |
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| notation |
C0268483 |
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| PAT ID |
C0268483 |
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| prefLabel |
Tyrosinemia |
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| Sub Class Of | ||
| Synonyms |
Tyrosinemias tyrosinemia Hypertyrosinemia Tyrosinaemia Hereditary Tyrosinemia Hereditary Tyrosinemias Tyrosinemias [Disease/Finding] Tyrosinemia (disorder) Tyrosinemias, Hereditary Tyrosinemia, Hereditary |