Related MeSH Hierarchy (6)
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors » Urea Cycle Disorders, Inborn
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Urea Cycle Disorders, Inborn
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Urea Cycle Disorders, Inborn
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors » Urea Cycle Disorders, Inborn
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Urea Cycle Disorders, Inborn
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Urea Cycle Disorders, Inborn
Description
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. MeSH
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Subtype Terms (5)
Argininosuccinic Aciduria
3 approved drugs
Carbamoyl-Phosphate Synthase I Deficiency Disease
1 approved drug
Citrullinemia
1 experimental drug
Hyperargininemia
2 drugs (1 approved, 1 experimental)
Ornithine Carbamoyltransferase Deficiency Disease
10 drugs (3 approved, 7 experimental)
Approved Indicated Drugs (3)
Phase 2 Indicated Drugs (6)
Phase 1 Indicated Drugs (1)
Other Experimental Indicated Drugs (5)
Organization Involved with Phase 4 Indications (2)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (8)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (3)
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UMLS Data
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