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Tyrosinemier
Hierarki: | ∟ ∟ ∟ ∟ ∟ ∟ Tyrosinemier 27 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tyrosinemier 27 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tyrosinemier 27 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tyrosinemier 27 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tyrosinemier 27 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Tyrosinemier 27 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
Bredare villkor: | ∟ ∟ ∟ ∟ ∟ ∟ Tyrosinemier ∟ ∟ ∟ ∟ ∟ Tyrosinemier ∟ ∟ ∟ ∟ ∟ Tyrosinemier ∟ ∟ ∟ ∟ ∟ Tyrosinemier ∟ ∟ ∟ ∟ ∟ Tyrosinemier ∟ ∟ ∟ ∟ ∟ Tyrosinemier |
Anmärkning: | Amino Acid Metabolism, Inborn Errors (1967-1999)X |
Anmärkning: | 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 mental retardation, 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 mental retardation and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
X |
Annotation: | note X refs: consider also TYROSINE TRANSAMINASE /defic or other enzymes /defic
X |
historyNote*: | 2000
X |
publicMeSHNote*: | 2000
X |
activeMeSHYear*: | 2007X |
dateCreated*: | 1999-11-04X |
dateEstablished*: | 2000-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | KEVX |
Typ: | |
Samordna villkor: | |
URI: | |
Termer och motsvarande begrepp: | Tyrosinemiat (fi) X4-hydroksifenylipyruvaattidioksigenaasin puute (fi, ersatt) Fumaryyliasetoasetaasin puute (fi, ersatt) Tyrosiinitransaminaasin puute (fi, ersatt) Tyrosinemia (fi, ersatt) Tyrosinemias (en) Tyrosinemias, Hereditary (en, ersatt) Tyrosine Transaminase Deficiency Disease (en, ersatt) Hypertyrosinemia, Type I (en, ersatt) Hereditary Tyrosinemia, Type III (en, ersatt) Deficiency Disease, Fumarylacetoacetase (en, ersatt) Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase (en, ersatt) 4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease (en, ersatt) Deficiency Disease, Tyrosine Transaminase (en, ersatt) Fumarylacetoacetase Deficiency Disease (en, ersatt) Hereditary Tyrosinemia, Type II (en, ersatt) Hereditary Tyrosinemia, Type I (en, ersatt) 4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease (en, ersatt) Tyrosinaemia (la-FI, ersatt) |
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