Type 1 Tyrosinemia with Hypophosphatemic Rickets:

Introduction: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase (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. Case Presentation: Our case was a girl in mid childhood 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 type1 and after treatment with (2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC) significant remission, was achieved.