Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.
A 6-year-old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X-linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia.
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000641:Ammonia / Q000097:blood*; D002648:Child; D003128:Coma / Q000209:etiology; D004044:Dietary Proteins / Q000008:administration & dosage; D005260:Female; D006579:Heterozygote; D006801:Humans; D007239:Infections / Q000150:complications; D008099:Liver / Q000201:enzymology; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D012894:Sleep Stages
D004044:Dietary Proteins; D000641:Ammonia