- Carbamoyl phosphate synthetase I deficiency
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 32671
ICD10 =
ICD9 = ICD9|270.6
ICDO =
OMIM = 237300
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 314
MeshID = D020165Carbamoyl 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. Thenervous system is especially sensitive to the effects of excess ammonia.ymptoms
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 inliver cells. This cycle processes excessnitrogen , 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.
This condition is inherited in an
autosomal recessive pattern, which means two copies of the gene in each cell are altered.ee also
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Carbamoyl phosphate synthetase I References
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