Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase Deficiency

摘要: Extract: We have described a patient with ornithine transcarbamylase (OTC) deficiency. The clinical course and pedigree substantiate the X-linked transmission of defect varying degrees illness in females. Because orotic aciduria accompanied hyperammonemia patient, acid was measured as an indication partial OTG deficiency after ammonia protein loading members patient's family. Both mother, obligate carrier, aunt, only symptomatic female this pedigree, had ingestion ammonium chloride. They also significant load did two cousins whose tolerance normal. maternal grandmother excreted large amount her urine relatively consistently. These data suggest that are asymptomatic heterozygotes despite their normal tests. Speculation: Protein form palatable innocuous meal, followed by determination content urine, may prove to be sensitive, noninvasive, easy means identify carriers