A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy

A 49-year-old woman with intellectual disability and a food preference for fried chicken entered nursing home. After home diet, she developed episodic attacks of hyperammonemic encephalopathy. Her characteristic the negative results brain liver imaging studies suggested urea cycle disorder. high plasma citrulline level on amino acid analysis genetic test citrine gene confirmed deficiency (adult-onset type II citrullinemia). Although low-carbohydrate diet was insufficient, combination therapy medium-chain triglyceride (MCT) oil effective. MCT may be promising treatment option.