Mild citrullinemia

Mild citrullinemia:

Mild citrullinemia: Introduction

Mild citrullinemia: Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different symptoms. Milder forms may present in childhood and rare late-onset forms (type II) may not cause symptoms until adulthood. More detailed information about the symptoms, causes, and treatments of Mild citrullinemia is available below.

Symptoms of Mild citrullinemia

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See full list of 13 symptoms of Mild citrullinemia

Treatments for Mild citrullinemia

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
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Wrongly Diagnosed with Mild citrullinemia?

Misdiagnosis of Mild citrullinemia
Failure to diagnose Mild citrullinemia
Hidden causes of Mild citrullinemia (possibly wrongly diagnosed)
Undiagnosed: Mild citrullinemia

Mild citrullinemia: Deaths

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Mild citrullinemia: Complications

Review possible medical complications related to Mild citrullinemia:

Brain damage if untreated (see Brain damage)
Brain swelling if untreated
Breathing problems if untreated
Changes in muscle tone if untreated
Muscle weakness if untreated
Poor growth if untreated
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Causes of Mild citrullinemia

Genetic mutation
Symptoms may be triggered by:
Surgery
Infection
Alcohol
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See full list of 8 causes of Mild citrullinemia

More information about causes of Mild citrullinemia:

Underlying causes of Mild citrullinemia

Prognosis for Mild citrullinemia

Prognosis for Mild citrullinemia: 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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