Tyrosinemia

Tyrosinemia

Classification and external resources
Specialty endocrinology
ICD-10 E70.2
ICD-9-CM 270.2
OMIM 276700 276600 276710
DiseasesDB

13478 13486

29836
eMedicine ped/2339
Patient UK Tyrosinemia
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

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

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

References

  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

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