Urea cycle disorders

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Contents

Urea Cycle Disorders

Background

From wikipedia:Urea_cycle_disorder

An urea cycle disorder or urea cycle defect is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, and is not removed from the body.

Urea cycle disorders are included in the category of inborn errors of metabolism. There is no cure.

Current Treatments

Sodium phenylbutyrate

Further Reading

wikipedia:Urea_cycle_disorder

National Urea Cycle Disorders Foundation