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Diseases » Citrullinemia I » Summary

What is Citrullinemia I?

What is Citrullinemia I?

  • 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.

Citrullinemia I: Introduction

Types of Citrullinemia I:

Broader types of Citrullinemia I:

How many people get Citrullinemia I?

Prevalance of Citrullinemia I: 1 per 57,000 people have citrullinemia I worldwide , Genetics Home Reference website
Prevalance Rate of Citrullinemia I: approx 1 in 57,000 or 0.00% or 4,771 people in USA [about data]

How serious is Citrullinemia I?

Prognosis of 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.
Complications of Citrullinemia I: see complications of Citrullinemia I

What causes Citrullinemia I?

Causes of Citrullinemia I: see causes of Citrullinemia I

What are the symptoms of Citrullinemia I?

Symptoms of Citrullinemia I: see symptoms of Citrullinemia I

Complications of Citrullinemia I: see complications of Citrullinemia I

Onset of Citrullinemia I: Symptoms usually appear within days of birth. Milder forms may not present until adulthood.

Can anyone else get Citrullinemia I?

More information: see contagiousness of Citrullinemia I
Inheritance: see inheritance of Citrullinemia I

Citrullinemia I: Testing

Diagnostic testing: see tests for Citrullinemia I.

Misdiagnosis: see misdiagnosis and Citrullinemia I.

How is it treated?

Doctors and Medical Specialists for Citrullinemia I: Medical Geneticist ; see also doctors and medical specialists for Citrullinemia I.
Treatments for Citrullinemia I: see treatments for Citrullinemia I

Name and Aliases of Citrullinemia I

Main name of condition: Citrullinemia I

Other names or spellings for Citrullinemia I:

argininosuccinate synthetase deficiency, citrullinuria, classic citrullinemia, citrullinemia I, neonatal onset, ASSD, Citrullinemia type 1, CTNL1, ASS deficiency, Citrullinemia 1, Argininosuccinic acid synthase deficiency

Citrullinemia I: Related Conditions

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


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