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bn:03499113n
Noun Concept
Categories: Autosomal recessive disorders, Amino acid metabolism disorders
EN
carbamoyl phosphate synthetase I deficiency  carbamoyl phosphate synthetase I deficiency disease  Carbamoyl-phosphate synthase I deficiency disease  Carbamoyl-Phosphate Synthase  Carbamoyl-phosphate synthetase 1 deficiency  Deficiency Disease
EN
Carbamoyl phosphate synthetase 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. Wikipedia
Definitions
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Sources
EN
Carbamoyl phosphate synthetase 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. Wikipedia
Amino acid metabolic disorder that involves accumulation of ammonia in the blood Wikidata
IS A
disease
rare disease
urea cycle disorder
autosomal recessive disease
GENETIC ASSOCIATION
CPS1
HEALTH SPECIALTY
neurology
endocrinology
medical genetics
Wikipedia
EN
carbamoyl phosphate synthetase I deficiency
Wikidata
EN
carbamoyl phosphate synthetase I deficiency disease
Wikipedia Redirections
EN
Carbamoyl-phosphate synthase I deficiency disease, Carbamoyl-phosphate synthase i deficiency disease, Carbamoyl phosphate synthase I deficiency disease, Carbamoyl phosphate synthetase i deficiency, Carbamyl-Phosphate Synthetase I Deficiency Disease, Ornithine carbamoyl phosphate deficiency
Wikidata Alias
EN
Carbamoyl-Phosphate Synthase, Carbamoyl-phosphate synthetase 1 deficiency, Carbamoyl-phosphate synthetase deficiency, Carbamoyl-phosphate synthetase I deficiency, Carbamoyl Phosphate Synthetase 1 Deficiency, Carbamoyl Phosphate Synthetase Deficiency, CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO, CPS1 deficiency, CPS1D, Cps 1 Deficiency, CPS I deficiency, Deficiency Disease

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