Urea Cycle Disorders, Inborn D056806

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

Subtype Terms (5)

Citrullinemia
1 experimental drug

Hyperargininemia
1 experimental drug

Ornithine Carbamoyltransferase Deficiency Disease
7 drugs (1 approved, 6 experimental)


Phase 1 Indicated Drugs (1)


Organization Involved with Phase 4 Indications (2)

Organization Involved with Phase 3 Indications (1)

Organization Involved with Phase 1 Indications (2)

Organization Involved with Other Experimental Indications (3)

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UMLS Data


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