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?
High-Yield Explanation
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