serw-MX  [xml]  

 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.140 Brain Diseases .
C10.228.140.163 Brain Diseases, Metabolic .
C10. Brain Diseases, Metabolic, Inborn .
C10. Urea Cycle Disorders, Inborn .
C10. Ornithine Carbamoyltransferase Deficiency Disease .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.828 Ornithine Carbamoyltransferase Deficiency Disease .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.100 Amino Acid Metabolism, Inborn Errors .
C16.320.565.100.940 Urea Cycle Disorders, Inborn .
C16.320.565.100.940.750 Ornithine Carbamoyltransferase Deficiency Disease .
C16.320.565.189 Brain Diseases, Metabolic, Inborn .
C16.320.565.189.937 Urea Cycle Disorders, Inborn .
C16.320.565.189.937.750 Ornithine Carbamoyltransferase Deficiency Disease .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.132 Brain Diseases, Metabolic .
C18.452.132.100 Brain Diseases, Metabolic, Inborn .
C18.452.132.100.937 Urea Cycle Disorders, Inborn .
C18.452.132.100.937.500 Ornithine Carbamoyltransferase Deficiency Disease .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.100 Amino Acid Metabolism, Inborn Errors .
C18.452.648.100.940 Urea Cycle Disorders, Inborn .
C18.452.648.100.940.500 Ornithine Carbamoyltransferase Deficiency Disease .
C18.452.648.189 Brain Diseases, Metabolic, Inborn .
C18.452.648.189.937 Urea Cycle Disorders, Inborn .
C18.452.648.189.937.500 Ornithine Carbamoyltransferase Deficiency Disease .
D08 Enzymes and Coenzymes .
D08.811 Enzymes .
D08.811.641 Multifunctional Enzymes .
D08.811.641.500 Aspartate Carbamoyltransferase .
D08.811.913 Transferases .
D08.811.913.555 One-Carbon Group Transferases .
D08.811.913.555.275 Carboxyl and Carbamoyl Transferases .
D08.811.913.555.275.200 Aspartate Carbamoyltransferase .
D08.811.913.555.275.600 Ornithine Carbamoyltransferase .
 Synonyms & Historicals
Carboxyl and Carbamoyl Transferases .
Carbamoyl Transferases .
Carbamoyltransferases .
Carboxyl Transferases .
Carboxyltransferases .
Transferases, Carbamoyl .
Transferases, Carboxyl .
A group of enzymes that catalyze the transfer of carboxyl- or carbamoyl- groups. EC 2.1.3. .
Aspartate Carbamoyltransferase .
Co(II)-Aspartate Transcarbamoylase .
Ni(II)-Aspartate Transcarbamoylase .
Carbamoyltransferase, Aspartate .
Transcarbamylase, Aspartate .
Aspartate Transcarbamylase .
An enzyme that catalyzes the conversion of carbamoyl phosphate and L-aspartate to yield orthophosphate and N-carbamoyl-L-aspartate. (From Enzyme Nomenclature, 1992) EC .
Ornithine Carbamoyltransferase .
Ornithine Carbamylphosphate Transferase .
Carbamoyltransferase, Ornithine .
Carbamylphosphate Transferase, Ornithine .
Transcarbamylase, Ornithine .
Transferase, Ornithine Carbamylphosphate .
Ornithine Transcarbamylase .
A urea cycle enzyme that catalyzes the formation of orthophosphate and L-citrulline (CITRULLINE) from CARBAMOYL PHOSPHATE and L-ornithine (ORNITHINE). Deficiency of this enzyme may be transmitted as an X-linked trait. EC .
Ornithine Carbamoyltransferase Deficiency Disease .
Deficiency Disease, Ornithine Carbamoyltransferase .
Deficiency Disease, Ornithine Transcarbamylase .
Ornithine Carbamoyltransferase Deficiency .
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To .
Deficiencies, OTC .
Deficiencies, Ornithine Transcarbamylase .
Deficiency, OTC .
Deficiency, Ornithine Transcarbamylase .
OTC Deficiencies .
Ornithine Transcarbamylase Deficiencies .
Ornithine Transcarbamylase Deficiency Disease .
Ornithine Transcarbamylase Deficiency .
OTC Deficiency .
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) .