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What is 39 years old, male Chronic knee pain,Headache, nausea, epigastric pain, blurred vision,Progressed over next 48 h to confusion, slowed speech,Progressive decline in GCS, requiring intubation,Seizure activity.CT brain showed cerebral oedema.Ammonia level: 652 mmol/L (RR, < 50 mmol/L). profound elevation of urine orotic acid, plasma glutamine level high, arginine level low.What is the pattern of inheritance of the disease? and explain in detail?
The above clinical features and laboratory investigations suggests the diagnosis of ornithine transcarbamylase deficiency which is an enzyme required in urea cycle Reference: Harpers illustrated biochemistry 30th edition