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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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Inheritance

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How is citrullinemia type I inherited?

Citrullinemia type I is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[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.


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.