Tyrosinemia

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Tyrosinemia
Classification and external resources
L-tyrosine-skeletal.png
ICD-10 E70.2
ICD-9 270.2
OMIM 276700 276600 276710
DiseasesDB 13478 13486 29836
eMedicine ped/2339
MeSH D020176

Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation. Untreated, tyrosinemia can be fatal.

Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).[1]

Types[edit]

Tyrosinemia is inherited in an autosomal recessive pattern.

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

Pathophysiology of metabolic disorders of tyrosine, resulting in elevated levels of tyrosine in blood.

Treatment[edit]

Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.

See also[edit]

References[edit]

  1. ^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. Chapter 79. New York: McGraw-Hill.

External links[edit]