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 te...

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 te...

tyrosinemia type ii is a rare autosomal recessive disorder wich can present itself with recurrent epithelial keratitis, hyperkeratotic skin lesions and mental retardation. this article reports the rare occurrence of this disease in both offsprings (two brothers) of a family (consanguinous'marriage) who were managed with a lowprotein diet and a special regimen.

Tyrosinemia type 1 is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase enzyme. Here we report an eight month-old male Saudi infant who presented with jaundice, fever, and disturbed level of consciousness accompanied by abdominal distension, hepatomegaly and ascites with features suggestive of rickets. The diagnosis of tyrosinemia typ 1was confirmed bas...

Purpose: This study aimed to retrospectively evaluate the frequency of cardiomyopathy and its response routinely used nitisinone treatment in patients with tyrosinemia type 1.
 Materials Methods: Participants this descriptive cross-sectional were Tyrosinemia Type 1 who under care a single metabolic unit. The primary outcome was “presence abnormal echocardiographic findings” at diagnosis im...