tyrosinemia type I
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.
MONDO:0019743
obsolete nephropathy secondary to a storage or other metabolic disease (obsolete MONDO:0019743)
excluded_subClassOf
MONDO:0020127
hereditary peripheral neuropathy
excluded_subClassOf
MONDO:0004741
tyrosinemia
is_a
FAH deficiency
exact
TYRSN1
related
Tyrosinemia Type 1
exact
fumarylacetoacetase deficiency
exact
fumarylacetoacetate hydrolase deficiency
exact
hepatorenal tyrosinemia
exact
type I tyrosinemia
exact
tyrosinemia type 1
related
tyrosinemia type I
exact
tyrosinemia, type I
related