Related MeSH Hierarchy (7)
Diseases [C] » Nervous System Diseases [C10] » Central Nervous System Diseases » Brain Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Urea Cycle Disorders, Inborn » Ornithine Carbamoyltransferase Deficiency Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Genetic Diseases, X-Linked » Ornithine Carbamoyltransferase Deficiency Disease
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 » Ornithine Carbamoyltransferase Deficiency Disease
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Urea Cycle Disorders, Inborn » Ornithine Carbamoyltransferase Deficiency Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Brain Diseases, Metabolic » Brain Diseases, Metabolic, Inborn » Urea Cycle Disorders, Inborn » Ornithine Carbamoyltransferase Deficiency Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Amino Acid Metabolism, Inborn Errors » Urea Cycle Disorders, Inborn » Ornithine Carbamoyltransferase Deficiency Disease
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Brain Diseases, Metabolic, Inborn » Urea Cycle Disorders, Inborn » Ornithine Carbamoyltransferase Deficiency Disease
Description
An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) MeSH
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Phase 2 Indicated Drugs (2)
Organization Involved with Phase 2 Indications (13)
Organization Involved with Phase 1 Indications (3)
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UMLS Data
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