IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, OTC
Definition : Molecular assay reagents intended to identify mutations in the ornithine carbamoyltransferase (OTC) gene, located at chromosome Xp21.1, which encodes for the enzyme ornithine transcarbamylase that participates in the urea cycle. Mutations at this locus have been identified in male patients with ornithine transcarbamylase deficiency (OTCD); carrier females may suffer vomiting, lethargy, and seizures.
Entry Terms : "Hyperammonemia Gene Mutation Reagents" , "Ornithine Carbamoyltransferase Deficiency (OTCD) Gene Mutation Reagents" , "Urea Cycle Disorders Gene Mutation Reagents" , "OTC Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, OTC"
UMDC code : 24648