Inherited Metabolic Disorders

A 20-year-old female with a history of phenylketonuria (PKU), anxiety, depression, obesity, and irregular menses comes to clinic for a health prevention visit. Her PKU was diagnosed by the state newborn screening program in infancy, and she was followed by a metabolic physician for many years. However, her last visit with a metabolic physician or dietitian was at 17 years of age. Since that time, she was lost to follow-up because of a lack of insurance. She has been consuming an unrestricted diet, and she has not monitored her phenylalanine or tyrosine levels in the last 3–4 years. Her anxiety and depression were diagnosed two years ago, but she is no longer taking medication or seeing a therapist. Given that she has not had a period for more than 3 months, a urine pregnancy test is performed and is positive.