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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
More Names
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Overview


Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders.[1] In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness.[1][2] Citrullinemia type I is caused by mutations in the ASS1 gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 4/20/2010

References

  1. Citrullinemia. Genetics Home Reference (GHR). 2006; http://www.ghr.nlm.nih.gov/condition=citrullinemia. Accessed 7/11/2011.
  2. Citrullinemia. National Organization for Rare Disorders (NORD). 2001; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Citrullinemia. Accessed 4/20/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Citrullinemia type I. This website is maintained by the National Library of Medicine.
  • MedlinePlus.gov provides more information on urea cycle disorders in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Citrullinemia type I. Click on the link to view a sample search on this topic.