Diagnosing Arginase 1 Deficiency

Most affected infants are now identified at birth through newborn screening. Unfortunately, not all states automatically test for ARG1-D and infants may not exhibit symptoms immediately at birth. While important, newborn screening has limited effectiveness due to low levels of plasma arginine in newborns and inconsistent testing standards. People with ARG1-D may be misdiagnosed with other conditions such as cerebral palsy or hereditary spastic paraplegia. Plasma amino acid panels and genetic tests are considered to be more reliable and are readily available. Early detection of ARG1-D is critical and can help your child get the treatment he/she needs. ARG1-D can be diagnosed easily, and for those in need these tests are accessible free of cost.