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Carbamoyl-Phosphate Synthase I Deficiency Disease
Hierarchy: | ∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease 32 coordinate concepts∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease 32 coordinate concepts∟ ∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease 32 coordinate concepts∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease 32 coordinate concepts∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease 32 coordinate concepts∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease 32 coordinate concepts∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease 32 coordinate conceptsX |
Broader terms: | ∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease ∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease ∟ ∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease ∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease ∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease ∟ ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease ∟ ∟ ∟ ∟ Carbamoyl-Phosphate Synthase I Deficiency Disease |
Annotation: | consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic; DF: CP SYNTHASE I DEFIC DIS
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History note: | Amino Acid Metabolism, Inborn Errors (1975-1999) | Carbamoyl-Phosphate Synthase (Ammonia)/deficiency (1989-1999) | Metabolism, Inborn Errors (1970-1974)X |
historyNote*: | 2000
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publicMeSHNote*: | 2000
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Scope note: | 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)
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activeMeSHYear*: | 2007X |
dateCreated*: | 1999-11-05X |
dateEstablished*: | 2000-01-01X |
dateRevised*: | 2006-07-05X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | lktX |
recordOriginator*: | KEVX |
Related term: | |
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Labels and equivalent concepts: | Karbamoyylifosfaattisyntaasi I:n puutos (fi) XKarbamoyylifosfaattisyntaasi I:n puute (fi, replaced) Karbamolylfosfatsyntas I-bristsjukdom (sv) Deficiency Disease, Carbamoyl-Phosphate Synthase (en, replaced) Deficiency Disease, Carbamoylphosphate Synthetase I (en, replaced) Deficiency Disease, Carbamyl Phosphate Synthetase (en, replaced) Deficiency Disease, Carbamoyl Phosphate Synthase (Ammonia) (en, replaced) Carbamyl-Phosphate Synthetase I Deficiency Disease (en, replaced) Carbamoyl-Phosphate Synthetase I Deficiency Disease (en, replaced) Carbamoylphosphate Synthetase I Deficiency Disease (en, replaced) Carbamyl Phosphate Synthetase Deficiency Disease (en, replaced) Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease (en, replaced) |
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