Mutations in the ASS gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen, in the form of ammonia, and other byproducts of the urea cycle, accumulate in the bloodstream, leading to the characteristic features of type I citrullinemia. Type II
The symptoms of type II citrullinemia (Online Mendelian Inheritance in Man (OMIM): 605814 and Online Mendelian Inheritance in Man (OMIM): 603471) usually appear during adulthood and mainly affect the central nervous system. Characteristic features include confusion, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures, and coma. Specific investigation like decrease citrulline level , increase ammonium ion . These symptoms can be life-threatening, and are known to be triggered by certain medications, infections, and alcohol intake in people with this type.Type II citrullinemia may also develop in people who had a liver disorder called neonatal cholestasis during infancy. This condition blocks the flow of bile and prevents the body from processing certain nutrients properly. In many cases, the  symptoms resolve within a year. Years or even decades later, however, some of these people develop the characteristic features of adult type II citrullinemia.Type II citrullinemia is primarily found in the Japanese population, where it occurs in an estimated one in 100,000 to 230,000 individuals. Type II has also been reported in people from East Asian and Middle Eastern populations. Mutations in the SLC25A13 gene are responsible for type II citrullinemia.
A tuberculoma is a clinical manifestation of tuberculosis which conglomerates tubercles into a firm lump, and so can mimic cancer tumors of many types in medical imaging studies. Since these are evolutions of primary complex, the tuberculomas may contain within caseum or calcifications. With the passage of time Mycobacterium tuberculosis can transform into crystals of calcium. These can affect any organ such as the brain, intestine, ovaries, breast, lungs, esophagus, liver, pancreas, bones, and many others. As the histologic and clinical indications, as well as tumor markers such as the CA-125, are similar, it is often difficult to differentiate tuberculoma from cancer. For these reasons, tuberculosis should always be considered in the differential diagnosis of cancer.Tuberculoma is commonly treated through the HRZE drug combination (Isoniazid, Rifampin, Pyrazinamide, Ethambutol) followed by maintenance therapy. == References ==