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Urea Cycle Disorders Treatment: An Overview

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The urea cycle is a series of biochemical reactions that occurs primarily in the liver and produces urea from ammonia.This process converts the toxic ammonia produced during protein breakdown into urea for excretion. Urea cycle disorders are a group of rare genetic conditions that result from enzyme deficiencies in the urea cycle. This causes toxic levels of ammonia to accumulate in the bloodstream, which can damage the brain and be life-threatening. The most common urea cycle disorders are ornithine transcarbamylase (OTC) deficiency, citrullinemia types I and II, argininosuccinic aciduria, and arginase deficiency.

Diagnosis of urea cycle disorders

Urea cycle disorders are typically diagnosed based on signs and symptoms, family history, and diagnostic tests. Urea Cycle Disorder Treatment may newborns present with lethargy, respiratory distress, feeding problems, and seizures if ammonia levels are very high. Older children and adults often experience vomiting, changes in mental status such as confusion or coma, and additional neurologic issues. The diagnosis is confirmed through genetic testing, metabolic testing of ammonia and amino acid levels in blood and urine, and tests to detect specific enzyme deficiencies. Early diagnosis is important so that rapid treatment can be started to prevent permanent brain damage from hyperammonemia.

Emergency Urea Cycle Disorder Treatment for high ammonia levels

When ammonia levels spike and symptoms occur, immediate treatment is necessary to reduce toxic ammonia levels. The child will be hospitalized and treatment may involve: sodium benzoate and/or phenylbutyrate to help remove ammonia from the blood, supplemental carglumic acid to stimulate the urea cycle, dialysis to filter ammonia out of the blood, and nutrition support through intravenous fluids and feeding tube. Antiseizure medications are also given if seizures occur. The goal of emergency treatment is to bring ammonia levels down quickly to prevent further neurological complications.

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