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Citrullinemia Type 1

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Citrullinemia Type 1 is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • arginosuccinic acid synthetase deficiency
  • ASS deficiency
  • CTLN1
  • arginosuccinate synthetase deficiency
  • citrullinemia, classic

Disorder Subdivisions

  • None

General Discussion

Citrullinemia type I (CTLN1) is a rare autosomal recessive genetic disorder that includes a neonatal acute (classic) form, a milder late-onset form, a form that begins during or after pregnancy, and an asymptomatic form.



CTLN1 is caused by deficiency or absence of the enzyme argininosuccinate synthetase (ASS). ASS is one of six enzymes that play a role in the removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and all body fluids.



Infants with the classic form may experience vomiting, refusal to eat, progressive lethargy, and show signs of increased intracranial pressure. Prompt treatment can prolong survival, but neurologic deficits are usually present. The course of the late-onset form is sometimes milder but episodes of hyperammonemia are similar to the classic form.

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)

Climb Building

176 Nantwich Road

Crewe, Intl CW2 6BG

United Kingdom

Tel: 0845 241 2174

Tel: 800 652 3181

Email: info.svcs@climb.org.uk

Internet: http://www.CLIMB.org.uk



National Urea Cycle Disorders Foundation

75 South Grand Avenue

Pasadena, CA 91105-1602

Tel: (626)578-0833

Fax: (626)578-0823

Tel: (800)386-8233

Email: info@nucdf.org

Internet: http://www.nucdf.org



American Kidney Fund, Inc.

6110 Executive Boulevard

Suite. 1010

Rockville, MD 20852

USA

Tel: (301)881-3052

Fax: (301)881-0898

Tel: (800)638-8299

Email: mdemelo@kidneyfund.org

Internet: http://www.kidneyfund.org



National Kidney Foundation

30 East 33rd Street

New York, NY 10016

Tel: (212)889-2210

Fax: (212)689-9261

Tel: (800)622-9010

Email: info@kidney.org

Internet: http://www.kidney.org



Save Babies Through Screening Foundation

P.O. Box 42197

Cincinnati, OH 45242

USA

Tel: (610)251-9876

Fax: (610)647-5757

Tel: (888)454-3383

Email: email@savebabies.org

Internet: http://www.savebabies.org



MUMS National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: (920)336-5333

Fax: (920)339-0995

Tel: (877)336-5333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Urea Cycle Disorders Consortium

Children's National Medical Center

111 Michigan Avenue, NW

Washington, DC 20010

Tel: (815)333-4014

Email: jseminar@cnmc.org

Internet: http://rarediseasesnetwork.epi.usf.edu/ucdc/index.htm



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  6/4/2010

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