What does carbamoyl-phosphate synthase i deficiency disease mean?
Definitions for carbamoyl-phosphate synthase i deficiency disease
car·bamoyl-phos·phate syn·thase i de·fi·cien·cy dis·ease
This dictionary definitions page includes all the possible meanings, example usage and translations of the word carbamoyl-phosphate synthase i deficiency disease.
Wikipedia
carbamoyl-phosphate synthase i deficiency disease
Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood due to a lack of the enzyme carbamoyl phosphate synthetase I. 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.
U.S. National Library of Medicine
Carbamoyl-Phosphate Synthase I Deficiency Disease
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Numerology
Chaldean Numerology
The numerical value of carbamoyl-phosphate synthase i deficiency disease in Chaldean Numerology is: 3
Pythagorean Numerology
The numerical value of carbamoyl-phosphate synthase i deficiency disease in Pythagorean Numerology is: 4
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"carbamoyl-phosphate synthase i deficiency disease." Definitions.net. STANDS4 LLC, 2024. Web. 24 Apr. 2024. <https://www.definitions.net/definition/carbamoyl-phosphate+synthase+i+deficiency+disease>.
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