Tyrosine, phenylalanine and tryptophan are the three aromatic amino acids (AAA) involved
in protein synthesis. These amino acids and their metabolism are linked to the synthesis of a …

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition
resulting in hepatic failure with comorbidities involving the renal and neurologic systems and …

The management of tyrosinaemia type 1 (HT1, fumarylacetoacetase deficiency) has been
revolutionised by the introduction of nitisinone but dietary treatment remains essential and …

Hereditary tyrosinemia type Ⅰ (HT1) is a severe autosomal recessive inherited metabolic
disease, which can result in severe damage of liver and kidney. Photoacoustic imaging (PAI) …

Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal
tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations …

The genetic tyrosinemias are characterized by the accumulation of tyrosine in body fluids
and tissues. The most severe form of tyrosinemia, Type I, is a devastating disorder of …

The population of Quebec, Canada (7.3 million) contains∼ 6 million French Canadians;
they are the descendants of∼ 8500 permanent French settlers who colonized Nouvelle …

Background Increased homocysteine levels are a risk factor for atherosclerosis and its
sequelae. A common genetic mutation in methylenetetrahydrofolate reductase (MTHFR), an …

BACKGROUND: Hepatorenal tyrosinemia (HT1, fumarylacetoacetate hydrolase deficiency,
MIM 276700) can cause severe hepatic, renal and peripheral nerve damage. In Québec …

The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or
fumarylacetoacetate hydrolase deficiency; OMIM# 276700). HT1 is the most serious and …