Carbamoyl phosphate synthetase I deficiency

Carbamoyl phosphate synthetase I deficiency
ICD-9	270.6
OMIM	237300
DiseasesDB	32671
eMedicine	ped/314
MeSH	D020165

WikiDoc Resources for Carbamoyl phosphate synthetase I deficiency
Articles
Most recent articles on Carbamoyl phosphate synthetase I deficiency Most cited articles on Carbamoyl phosphate synthetase I deficiency Review articles on Carbamoyl phosphate synthetase I deficiency Articles on Carbamoyl phosphate synthetase I deficiency in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Carbamoyl phosphate synthetase I deficiency Images of Carbamoyl phosphate synthetase I deficiency Photos of Carbamoyl phosphate synthetase I deficiency Podcasts & MP3s on Carbamoyl phosphate synthetase I deficiency Videos on Carbamoyl phosphate synthetase I deficiency
Evidence Based Medicine
Cochrane Collaboration on Carbamoyl phosphate synthetase I deficiency Bandolier on Carbamoyl phosphate synthetase I deficiency TRIP on Carbamoyl phosphate synthetase I deficiency
Clinical Trials
Ongoing Trials on Carbamoyl phosphate synthetase I deficiency at Clinical Trials.gov Trial results on Carbamoyl phosphate synthetase I deficiency Clinical Trials on Carbamoyl phosphate synthetase I deficiency at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Carbamoyl phosphate synthetase I deficiency NICE Guidance on Carbamoyl phosphate synthetase I deficiency NHS PRODIGY Guidance FDA on Carbamoyl phosphate synthetase I deficiency CDC on Carbamoyl phosphate synthetase I deficiency
Books
Books on Carbamoyl phosphate synthetase I deficiency
News
Carbamoyl phosphate synthetase I deficiency in the news Be alerted to news on Carbamoyl phosphate synthetase I deficiency News trends on Carbamoyl phosphate synthetase I deficiency
Commentary
Blogs on Carbamoyl phosphate synthetase I deficiency
Definitions
Definitions of Carbamoyl phosphate synthetase I deficiency
Patient Resources / Community
Patient resources on Carbamoyl phosphate synthetase I deficiency Discussion groups on Carbamoyl phosphate synthetase I deficiency Patient Handouts on Carbamoyl phosphate synthetase I deficiency Directions to Hospitals Treating Carbamoyl phosphate synthetase I deficiency Risk calculators and risk factors for Carbamoyl phosphate synthetase I deficiency
Healthcare Provider Resources
Symptoms of Carbamoyl phosphate synthetase I deficiency Causes & Risk Factors for Carbamoyl phosphate synthetase I deficiency Diagnostic studies for Carbamoyl phosphate synthetase I deficiency Treatment of Carbamoyl phosphate synthetase I deficiency
Continuing Medical Education (CME)
CME Programs on Carbamoyl phosphate synthetase I deficiency
International
Carbamoyl phosphate synthetase I deficiency en Espanol Carbamoyl phosphate synthetase I deficiency en Francais
Business
Carbamoyl phosphate synthetase I deficiency in the Marketplace Patents on Carbamoyl phosphate synthetase I deficiency
Experimental / Informatics
List of terms related to Carbamoyl phosphate synthetase I deficiency

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

Overview

Carbamoyl phosphate synthetase I deficiency 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.

Symptoms

Carbamoyl phosphate synthetase I deficiency often becomes evident in the first few days of life. An infant with this condition may be lacking in energy (lethargic) or unwilling to eat, and have a poorly controlled breathing rate or body temperature. Some babies with this disorder may experience seizures or unusual body movements, or go into a coma. Complications of carbamoyl phosphate synthetase I deficiency may include developmental delay and mental retardation.

In some affected individuals, signs and symptoms of carbamoyl phosphate synthetase I deficiency may be less severe, and may not appear until later in life.

Pathophysiology

Mutations in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency. Carbamoyl phosphate synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.

In carbamoyl phosphate synthetase I deficiency, the enzyme that regulates the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia. Ammonia is especially damaging to the nervous system, and excess ammonia causes neurological problems and other signs and symptoms of carbamoyl phosphate synthetase I deficiency.

Carbamoyl phosphate synthetase I deficiency is inherited in an autosomal recessive pattern.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered.

See also

• Carbamoyl phosphate synthase I

Reference

• Carbamoyl phosphate synthetase I deficiency at NLM Genetics Home Reference

Template:WikiDoc Sources