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)
Also Known As:
CPS I Deficiency; Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease; Carbamoyl Phosphate Synthase 1 Deficiency; Carbamoyl Phosphate Synthetase I Deficiency; Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To; Carbamoyl-Phosphate Synthase 1 Deficiency Disease; Carbamoyl-Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency); Carbamoyl-Phosphate Synthetase I Deficiency Disease; Carbamoylphosphate Synthetase 1 Deficiency Disease -; Carbamoylphosphate Synthetase I Deficiency Disease; Carbamyl Phosphate Synthetase (CPS) Deficiency; Carbamyl Phosphate Synthetase Deficiency Disease; Carbamyl-Phosphate Synthetase 1 Deficiency Disease; CPS 1 Deficiencies; CPS I Deficiencies; Carbamoyl Phosphate Synthase 1 Deficiency Disease; Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency); Carbamoyl Phosphate Synthetase I Deficiency Disease; Carbamoylphosphate Synthetase 1 Deficiency Disease; Carbamyl Phosphate Synthetase 1 Deficiency Disease; Carbamyl Phosphate Synthetase I Deficiency Disease; CPS 1 Deficiency; Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency); Carbamyl-Phosphate Synthetase I Deficiency Disease; Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Networked: 16
relevant articles (1 outcomes,
1 trials/studies)
Relationship Network
Disease Context: Research Results
Related Diseases
Experts
1. | Baruteau, Julien:
1 article
(03/2022)
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2. | Chakrapani, Anupam:
1 article
(03/2022)
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3. | Dorman, Megan:
1 article
(03/2022)
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4. | Footitt, Emma:
1 article
(03/2022)
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5. | Grunewald, Stephanie:
1 article
(03/2022)
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6. | McSweeney, Melanie:
1 article
(03/2022)
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7. | Prunty, Helen:
1 article
(03/2022)
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8. | Rehsi, Preeya:
1 article
(03/2022)
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9. | Yeo, Mildrid:
1 article
(03/2022)
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10. | Beadles, Angela:
1 article
(01/2021)
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Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to Carbamoyl-Phosphate Synthase I Deficiency Disease:
1. | Antiviral Agents (Antivirals)IBA
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2. | Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
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3. | ArginaseIBA
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4. | Ligases (Synthetase)IBA
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5. | Carbamyl Phosphate (Carbamoyl Phosphate)IBA
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6. | AmmoniaIBA
03/01/2022
- " A retrospective analysis of clinical and biochemical data was performed for eight children who transitioned from treatment with a single ammonia scavenger, NaBz, to GPB at a single metabolic centre; UCDs included arginosuccinic aciduria (ASA) (n = 5), citrullinaemia type 1 (n = 2) and carbamoyl phosphate synthetase I deficiency (CPS1) (n = 1). " 12/09/1995
- " The elder child died at age 4 days, before the diagnosis of CPS I deficiency was established, but in the younger child, age 9 months, treatment was initiated on the 2nd day of life when ammonia concentration was moderately increased, and she has survived. " 07/30/2004
- " Two days after the uneventful term delivery of a 2.45 kg male, the neonate experienced cardiopulmonary decompensation and biochemical changes compatible with carbamoyl phosphate synthetase I (CPS I) deficiency (elevated ammonia with a peak of 948 micromol/L, deficiency of citrulline, and no increase in orotic acid). "
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7. | Urea (Carbamide)FDA LinkGeneric
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8. | EnzymesIBA
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9. | CitrullineIBA
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10. | N-acetyl glutamate synthetase deficiencyIBA
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Therapies and Procedures