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Tyrosinemia type 1

Disease Export to PDF
Name:
Tyrosinemia type 1
Description:
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
ORPHAcode:
882
Synonyms:
FAH deficiency
Fumarylacetoacetase deficiency
Fumarylacetoacetate hydrolase deficiency
Hepatorenal tyrosinemia
Tyrosinemia type I
XREF(s):
Orphanet
OMIM
MedDRA
ICD-10
Analyte(s):
FAH
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14