Tyrosinemia type III

Definition

Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterized by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.

Also known as tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency, tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency, tyrosinemia due to HPD deficiency, tyrosinemia type III — per MONDO

Also identified as

• DOID 0050727 per MONDO
• ICD9 270.2 per MONDO
• OMIM 276710 per MONDO
• Orphanet 69723 per MONDO
• SCTID 415764005 per MONDO
• UMLS C0268623 per MONDO