tyrosinemia

A low protein diet may be required in the management of tyrosinemia.

The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.

Treating a disease called tyrosinemia in newborns when given as an injection.

This type of tyrosinemia is much more common in Quebec, Canada.

Having liver damage caused by certain diseases, such as biliarycirrhosis or tyrosinemia.

The primary treatment for type 1 tyrosinemia is nitisinone (Orfadin).

About half of individuals with type II tyrosinemia are also mentally challenged.

Type 1 tyrosinemia is inherited in an autosomal recessive pattern.

Type I tyrosinemia is a disease caused by deficiency of the enzyme fumarylacetoacetase.

Type III tyrosinemia is very rare; only a few cases have been reported.

Type 1 tyrosinemia typically presents in infancy as failure to thrive and hepatomegaly.

Complete deficiency of this enzyme would lead to tyrosinemia III.

Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).

There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.

Nitisinone is used to treat a rare genetic condition called hereditary tyrosinemia type 1 (HT-1).

Tyrosinemia type I may progress to more serious complications such as severe liver disease, cirrhosis, and hepatocarcinoma if left untreated.

Untreated, tyrosinemia can be fatal.

Other uses include increasing the absorption of iron from foods and correcting a protein imbalance in certain newborns (tyrosinemia).

Tyrosinemia type II, also known as "Richner-Hanhart syndrome"

Mutations in the FAH gene cause type I tyrosinemia.

Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules.

Type 1 Tyrosinemia, also known as hepatorenal tyrosinemia, is the most severe form of tyrosinemia.

Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia).

Other recognised causes are Wilson's disease (a genetically inherited condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and hereditary fructose intolerance.

Nitisinone (also known as NTBC, an abbreviation of its full chemical name) is a drug originally developed as a herbicide, now used to slow the effects of hereditary tyrosinemia type 1.