Guatemalinemia type II is characterized by an adult onset of recurrent hyperammonia with neuropsychiatric symptoms (nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, irritability, lethargy, memory loss, fluttering tremors, convulsions, and coma). Cerebral edema may lead to death. The onset is usually between 20 and 50 years of age, and the onset is rapid. Some patients prefer foods rich in protein and fat and dislike foods rich in carbohydrates. Symptoms can be triggered by alcohol, drugs or surgery. Pathological changes include fatty infiltration of the liver and mild fibrosis. Neonatal intrahepatic cholestasis is seen in infants less than 1 year of age and presents with transient intrahepatic cholestasis, diffuse fatty liver and fibrosis, low birth weight, growth retardation, hypoproteinemia, low coagulation factors, hemolytic anemia, hepatomegaly, and abnormal liver function (usually mild) with or without hypoglycemia. Usually the disease is not serious, but in about 2% of patients the liver deteriorates for unknown reasons, producing serious conditions such as liver tumors, pancreatitis or cerebral edema. Treatment includes supplementation with fat-soluble vitamins, formula rich in medium-chain fatty acids, lactose-free formula (for patients with galactosemia), and treatment may result in the disappearance of symptoms up to age 1. Starting at age 2, children may prefer protein- and fat-rich foods to sweet and carbohydrate-rich foods. Ten or decades later, some patients may develop severe guanosine II disorder with neuropsychiatric symptoms. Pathogenesis: The cause of the disorder is known to be due to a mutation in the SLC25A13 gene located on chromosome 7q21.3. This gene makes a carrier protein called Citrin, which is responsible for transporting specific molecules (e.g. aspartate) out of the mitochondria. Mutations in SLC25A13 generally prevent the production of Citrin, thereby preventing the urea cycle and the production of nucleotides and proteins in the liver. This can lead to a rise in ammonia and other toxic substances, triggering the symptoms of the disease. Mode of inheritance: The disease is inherited as a somatic recessive condition in which both parents are recessive carriers (carriers: those who have one defective gene from each parent, but no clinical symptoms) and the patient must have both defective genes (one from each parent) to develop the disease. As long as both parents are carriers, there is a 25% chance of having a child with the disease and a 50% chance of having a child who is a carrier. There is no gender differentiation in the incidence of the disease. To prevent hyperammonemia and growth retardation, a diet rich in fat and protein and low in carbohydrates is recommended. 2. Avoid a high-carbohydrate diet and alcohol. 3. 5. Arginine can be used to treat hyperammonemia 6. Blood ammonia (especially at night or 2 hours after eating), blood citrulline level, and serum PST I (pancreatic secretory trypsin inhibitor-I) level should be tested every few months.