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Citrullinemia I

Citrullinemia I: Introduction

Citrullinemia I: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase 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. The neonatal form of citrullinemia type I is generally more serious than the later onset form which may sometimes be mild enough to produce no symptoms. More detailed information about the symptoms, causes, and treatments of Citrullinemia I is available below.

Symptoms of Citrullinemia I

Treatments for Citrullinemia I

  • 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...»

Home Diagnostic Testing

Home medical testing related to Citrullinemia I:

Wrongly Diagnosed with Citrullinemia I?

Citrullinemia I: Deaths

Read more about Deaths and Citrullinemia I.

Citrullinemia I: Complications

Review possible medical complications related to Citrullinemia I:

  • Coma
  • Brain damage if untreated (see Brain damage)
  • Coma if untreated (see Coma)
  • Death if untreated
  • Brain swelling if untreated
  • Breathing problems if untreated
  • Changes in muscle tone if untreated
  • more complications...»

Causes of Citrullinemia I

More information about causes of Citrullinemia I:

Disease Topics Related To Citrullinemia I

Research the causes of these diseases that are similar to, or related to, Citrullinemia I:

Misdiagnosis and Citrullinemia I

Unnecessary hysterectomies due to undiagnosed bleeding disorder in women: The bleeding disorder called Von Willebrand's disease is quite common in women, but often fails to more »

Citrullinemia I: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Citrullinemia I: Animations

Prognosis for Citrullinemia I

Prognosis for Citrullinemia I: 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.

Statistics for Citrullinemia I

Citrullinemia I: Broader Related Topics

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