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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Citrullinemia type I


Other Names for this Disease

  • Argininosuccinate synthetase deficiency
  • ASS deficiency
  • Citrullinemia 1
  • Citrullinuria
  • Classic citrullinemia
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Symptoms

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What are the symptoms of citrullinemia type I?

Citrullinemia type I presents as a clinical spectrum that includes an acute neonatal form, a milder late-onset form, a form without symptoms and/or hyperammonemia, and a form in which women have onset of severe symptoms during pregnancy or post partum.[1] Infants with the acute neonatal form typically appear normal at birth, but as ammonia builds up in the body they become progressively lethargic, feed poorly, vomit, and develop signs of increased intracranial pressure, which can lead to seizures and loss of consciousness.[2][1] Less commonly, a milder form of citrullinemia type I can develop later in childhood or adulthood. This later-onset form is associated with intense headaches, partial loss of vision, slurred speech, problems with balance and muscle coordination (ataxia), behavior problems, and lethargy.[2][3] Episodes of high blood ammonia often happen after going without food for long periods of time, during illness or infection or after high-protein meals.[3] Some people with gene mutations that cause citrullinemia type I never experience signs and symptoms of the disorder and are only found to be affected after a brother or sister is diagnosed.[2][3]
Last updated: 4/20/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Citrullinemia type I. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Stroke 5%
Ataxia -
Autosomal recessive inheritance -
Cerebral edema -
Coma -
Episodic ammonia intoxication -
Failure to thrive -
Hepatomegaly -
Hyperammonemia -
Hyperglutaminemia -
Hypoargininemia -
Intellectual disability -
Irritability -
Lethargy -
Neonatal onset -
Oroticaciduria -
Phenotypic variability -
Protein avoidance -
Respiratory alkalosis -
Seizures -
Vomiting -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Thoene JG. Citrullinemia Type I. GeneReviews. 2009; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ctlm. Accessed 4/20/2010.
  2. Citrullinemia. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition=citrullinemia. Accessed 7/11/2011.
  3. Citrullinemia. Screening, Technology and Research in Genetics (STAR-G). 2007; http://www.newbornscreening.info/Parents/aminoaciddisorders/ASAS.html. Accessed 4/20/2010.


Other Names for this Disease
  • Argininosuccinate synthetase deficiency
  • ASS deficiency
  • Citrullinemia 1
  • Citrullinuria
  • Classic citrullinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.