其他摘要：Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding tendency. In 1992, a new drug orfadin (NTBC, Nitisinone) which is a potent inhibitor of 4 hydroxy phenyl pyrovate dioxygenase has revolutionized the treatment of tyrosinemia type 1 and is now the mainstry of therapy. Case presentation: Our case was a girl in midchidhood period with profound rickets and slowly progressing liver disease who presented with difficulty walking and weakness of muscles. She had an elevated serum tyrosine and urinary succinylacetone, which confirmed the diagnosis of tyrosinemia type 1 and after treatment with NTBC significant remission, was achieved.
其他关键词：Hypophosphatemic Rickets; Type 1 Tyrosinemia
