释义 |
tyrosinemia type I tyrosinemia type I Metabolic disease A rare AR condition due to fumarylacetoacetate hydrolase Clinical Progressive liver dysfunction, cirrhosis, and hepatocellular carcinoma of childhood onset, renal tubular damage, acute porphyria-like neurologic crises Diagnosis ↑ Succinylacetone in prenatal testing, allele-specific oligonucleotide hybridization Management Liver transplant, NTBC– may help 'clear' toxic metabolites |