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Tyrosinemias MeSH Descriptor Data 2021


MeSH Heading
Tyrosinemias
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
Unique ID
D020176
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D020176
Annotation
note X refs: consider also TYROSINE TRANSAMINASE /‌defic or other enzymes /‌defic
Scope Note
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)
Entry Term(s)
4 Hydroxyphenylpyruvate Dioxygenase Deficiency Disease
4-Hydroxyphenol Pyruvic Acid Oxidase Deficiency Disease
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
Deficiency Disease, 4-Hydroxyphenol Pyruvic Acid Oxidase
Deficiency Disease, Fumarylacetoacetase
Deficiency Disease, Tyrosine Transaminase
Fumarylacetoacetase Deficiency
Fumarylacetoacetase Deficiency Disease
Hepatorenal Tyrosinemia
Hereditary Tyrosinemia, Type I
Hereditary Tyrosinemia, Type II
Hereditary Tyrosinemia, Type III
Hereditary Tyrosinemias
Hypertyrosinemia
Hypertyrosinemia, Type I
Keratosis Palmoplantaris with Corneal Dystrophy
Oregon Type Tyrosinemia
Richner-Hanhart Syndrome
Richner-Hanhart Syndrome, Tyrosinosis, Oculocutaneous Type
Tat Deficiency
Tyrosine Aminotransferase Deficiency
Tyrosine Transaminase Deficiency
Tyrosine Transaminase Deficiency Disease
Tyrosinemia
Tyrosinemia Type 1
Tyrosinemia, Type 2
Tyrosinemia, Type I
Tyrosinemia, Type II
Tyrosinemia, Type III
Tyrosinemias, Hereditary
Tyrosinosis, Oculocutaneous Type
NLM Classification #
QU 265.5.A5
Previous Indexing
Amino Acid Metabolism, Inborn Errors (1967-1999)
Public MeSH Note
2000
History Note
2000
Date Established
2000/01/01
Date of Entry
1999/11/04
Revision Date
2016/06/28
Tyrosinemias Preferred
Tyrosinemia, Type III Narrower
Tyrosinemia, Type I Narrower
Tyrosinemia, Type II Narrower
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