However, the equipment is costly and highly specialized training is required to read test results. This metabolic condition results from the lack of an enzyme in the liver that converts phenylalanine to tyrosine. Phenylalanine is one of the essential amino acids found in all protein foods. Symptoms include severe mental retardation, seizures, autism-like disorders, and a peculiar odor. Lifespan is reduced.
Treatment consists of lifelong dietary management and counseling.
This is an inherited disorder of galactose metabolism. Galactose is the major sugar found in milk. Symptoms include severe mental retardation, overwhelming systemic infections, failure to thrive, vomiting, liver disease, and cataracts. Untreated galactosemia is generally fatal. Symptoms include an odor of maple syrup in the urine, poor feeding, lethargy, coma, and mental retardation.