tyrosinemia type I
Sign in to saveAlso known as hepatorenal tyrosinemia, Hypertyrosinemia type I, Tyrosinemia I, Hereditary tyrosinemia, Type I, High tyrosinemia type 1, TYRSN1
tyrosinemia that has material basis in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body
Wikidata facts
- Subclass of
- tyrosinemia
Show 4 more facts
- health specialty
- endocrinology
- exact match
- identifiers.org/doid/DOID:0050726
- NCI Thesaurus ID
- C98641
- on focus list of Wikimedia project
- WikiProject Medicine
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