tyrosinemia

Summary
Definition
An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine.
Super Class
amino acid metabolic disorder
External Links
Disease Ontology
DOID:9275
Mondo Disease Ontology
UMLS
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