Argininemia (ARG1)

Argininemia is an autosomal recessive disorder caused by pathogenic variants in the gene ARG1. Most affected individuals will begin to manifest symptoms by 3 years of age, which may include hypotonia, ataxia, feeding problems, vomiting, poor growth, seizures, and spasticity, as well as developmental delay and intellectual disability. If left untreated, affected individuals may also later develop loss of ambulation, severe spasticity, secondary joint contractures, and complete loss of bowel and bladder control. Although life expectancy for this disorder is currently unknown, more than 75% of affected individuals survive into adulthood.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):