Tyrosinemia type II (Richner-Hanhart syndrome) is a rare autosomal recessive disease with deficiency of tyrosine aminotransferase and subsequently increasing level of serum tyrosine. We report the case of a 2-year-old girl who was referred due to bilateral corneal lesions. Slit-lamp examination showed small granular white deposits arranged in a dendritic pattern in the superficial central corne...

Tyrosinemia is a metabolic disorder which manifests as increased levels of tyrosine in the blood. Hereditary Tyrosinemia Type I is one of the many causes of Tyrosinemia. It is due to the deficiency of the enzyme fumaryl acetoacetate hydrolase which leads to the rise in the serum levels of fumaryl acetoacetate and presents with a variety of different signs and symptoms such as neurological disor...

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...

Radiation induced chromosomal deletions at the albino locus in the mouse, lethal when homozygous, cause abnormalities of expression of several unlinked liver specific genes. Recently, the gene encoding FAH was shown to be included in the deletions. Since in humans FAH mutations cause tyrosinemia type I, deletion homozygous mice were suspected of having tyrosinemia. Studies of plasma amino acids...

BACKGROUND Tyrosinemia type I is an inborn error of metabolism due to deficiency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation is with visceromegaly and subclinical rickets. The most severe complications are hepatic cancer and acute neurological crises. Without treatment, tyrosinemia type 1 is fatal. In...

Objective Tyrosinemia type 1 is a hereditary disorder with liver, kidney and nervous system involvement. Neurological crises can occur in tyrosinemic patients without treatment or when treatment stops. Here we report three children that developed diaphragmatic paralysis after discontinuation of nitisinone. In patients with tyrosinemia type 1, combined treatment with nitisinone and a low-tyrosin...