Citrullinemia Type 1
National Organization for Rare Disorders, Inc.
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.
- arginosuccinic acid synthetase deficiency
- ASS deficiency
- arginosuccinate synthetase deficiency
- citrullinemia, classic
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
National Urea Cycle Disorders Foundation
75 South Grand Avenue
Pasadena, CA 91105-1602
American Kidney Fund, Inc.
11921 Rockville Pike
Rockville, MD 20852
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Save Babies Through Screening Foundation
P.O. Box 42197
Cincinnati, OH 45242
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Urea Cycle Disorders Consortium
Children's National Medical Center
111 Michigan Avenue, NW
Washington, DC 20010
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Last Updated: 1/14/2013
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