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Tyrosinemia type 2

Disease Export to PDF
Name:
Tyrosinemia type 2
Description:
Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit.
ORPHAcode:
28378
Synonyms:
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
XREF(s):
Orphanet
OMIM
MedDRA
ICD-10
Analyte(s):
TAT
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14