Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Argininosuccinic aciduria


Other Names for this Disease

  • Arginino succinase deficiency
  • Argininosuccinate acidemia
  • Argininosuccinate lyase deficiency
  • Argininosuccinic acid lyase deficiency
  • Argininosuccinicaciduria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay, intellectual disability, progressive liver damage, skin lesions, and brittle hair. The condition is caused by mutations in the ASL gene and is inherited in an autosomal recessive pattern.[1] Long-term management includes dietary restriction of protein and supplementation with arginine. Acute crises may be treated by discontinuing oral protein intake, supplementing oral intake with intravenous lipids and/or glucose, and use of intravenous arginine and nitrogen scavenging therapy. If ammonia levels do not normalize, hemodialysis may be necessary.[2]
Last updated: 4/29/2011

References

  1. Argininosuccinic aciduria. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/argininosuccinic-aciduria. Accessed 4/29/2011.
  2. Nagamani SCS, Erez A, Lee B. Argininosuccinate Lyase Deficiency. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK51784/. Accessed 4/29/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Argininosuccinic aciduria. We will answer your question and update these pages with new resources and information.

Basic Information

  • Genetics Home Reference (GHR) contains information on Argininosuccinic aciduria. 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.
  • Online Mendelian Inheritance in Man (OMIM) is a 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 Argininosuccinic aciduria. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Arginino succinase deficiency
  • Argininosuccinate acidemia
  • Argininosuccinate lyase deficiency
  • Argininosuccinic acid lyase deficiency
  • Argininosuccinicaciduria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.