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Citrullinemia II

Citrullinemia II: Introduction

Citrullinemia II: A very rare urea cycle disorder involving a deficiency of the transport compound called Citrin. Citrin transports aspartate to where the enzyme argininosuccinic acid synthase can combine it with citrulline to make argininosuccinic acid. The deficiency prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. More detailed information about the symptoms, causes, and treatments of Citrullinemia II is available below.

Symptoms of Citrullinemia II

Treatments for Citrullinemia II

  • Treatment generally involves sticking to a low protein diet
  • High ammonia levels in the blood can be managed by using intravenous sodium benzoate, sodium phenylacetate and arginine
  • Severe cases may require hemodialysis to remove toxins from the blood
  • Oral sodium phenylbutyrate and arginine can be used as a long-term therapy
  • Regular blood tests are needed to monitor ammonia and amino acid levels
  • more treatments...»

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Citrullinemia II: Deaths

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Citrullinemia II: Complications

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Causes of Citrullinemia II

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Misdiagnosis and Citrullinemia II

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Citrullinemia II: Research Doctors & Specialists

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Citrullinemia II: Animations

Prognosis for Citrullinemia II

Prognosis for Citrullinemia II: Timely diagnosis and treatment usually results in a good prognosis with normal growth and learning abilities - treatment is lifelong. In some severe cases, high ammonia levels can cause complications even with treatment.

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Citrullinemia II: Broader Related Topics

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