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Carbamoyl phosphate synthetase I deficiency
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Medical condition
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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...

Instance of
Rare disease
class of disease
Subclass of
autosomal recessive disease
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