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Tyrosinemia

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Tyrosinemia
Pathology
Type

Metabolic

Cause(s)

Lack of one of three enzymes that break down the amino acid tyrosine

Symptoms

Liver or kidney disturbances, mental retardation

Mortality Rate

Almost always fatal if untreated

Treatments

Low protein diet, liver transplant

Show Information
  [Source]

Tyronsinemia is any of three conditions where the body cannot break down the amino acid tyrosine because one of the three necessary enzymes is missing. It is a genetic condition, requiring that a faulty gene be inherited from both parents. The condition affects the liver, kidneys and intellect.

In most cases, patients must be put on a diet low in animal protein. However, in severe cases, a liver transplant may be the only effective treatment.

Tyrosinemia at Wikipedia

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