ARG1-D Symptoms

ARG1-D is 1 of 8 urea cycle disorders (UCDs), but symptoms associated with arginase 1 deficiency differ. Unlike other urea cycle disorders, infants withARG1-D typically do not experience severe hyperammonemia or hyperammonemic coma. In fact, most infants with ARG1-D do not exhibit any symptoms during the first few months to a year of life.

As children diagnosed with ARG1-D approach one to three years of age, they may experience a lag in growth, may walk on their toes and develop progressive stiffness and lack of control of voluntary movements of the legs (spastic diplegia). Cognitive development slows or stops, and children likely will develop severe spasticity, an inability to walk, loss of bowel and bladder control and severe intellectual disability. In rare cases, symptoms can present after puberty. ARG1-D is a heterogeneous disease, meaning that symptoms and severity will vary. However, almost all affected children have growth deficiency and many also experience seizures.

Additionally, if you suspect your child or someone you know may have symptoms of ARG1-D, diagnostic testing if available for adults and children free of cost.