tyrosinemia type I

Summary
Synonym
  • hepatorenal tyrosinemia
Definition
A 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.
Super Class
tyrosinemia
External Links
Disease Ontology
DOID:0050726
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
38 ACAT1 acetyl-CoA acetyltransferase 1
3425 IDUA alpha-L-iduronidase
4968 OGG1 8-oxoguanine DNA glycosylase
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P24752 Acetyl-CoA acetyltransferase, mitochondrial
P35475 Alpha-L-iduronidase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024