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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

1. Infections
2. Hepatitis C
3. Ornithine Carbamoyltransferase Deficiency Disease
4. Argininosuccinic Aciduria
5. Inborn Urea Cycle Disorders

Experts

1. Baruteau, Julien: 1 article (03/2022)
2. Chakrapani, Anupam: 1 article (03/2022)
3. Dorman, Megan: 1 article (03/2022)
4. Footitt, Emma: 1 article (03/2022)
5. Grunewald, Stephanie: 1 article (03/2022)
6. McSweeney, Melanie: 1 article (03/2022)
7. Prunty, Helen: 1 article (03/2022)
8. Rehsi, Preeya: 1 article (03/2022)
9. Yeo, Mildrid: 1 article (03/2022)
10. Beadles, Angela: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Carbamoyl-Phosphate Synthase I Deficiency Disease:
1. Antiviral Agents (Antivirals)IBA
2. Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)IBA
3. ArginaseIBA
4. Ligases (Synthetase)IBA
5. Carbamyl Phosphate (Carbamoyl Phosphate)IBA
6. AmmoniaIBA
7. Urea (Carbamide)FDA LinkGeneric
8. EnzymesIBA
9. CitrullineIBA
10. N-acetyl glutamate synthetase deficiencyIBA

Therapies and Procedures

1. Liver Transplantation
2. Hemodiafiltration
3. Therapeutics
4. Continuous Renal Replacement Therapy