Argininemia is an autosomal recessive disorder caused by a deficiency of the enzyme arginase which results in increased levels of the amino acid arginine. It has been estimated to affect 1:200,000 individuals worldwide (Lambert et al., 2017).

The most common clinical presentation associated with this condition includes seizures and intellectual disability as well as other neurological issues such as hypotonia; muscle weakness; ataxia; delayed motor development; spasticity and sensory loss. Other symptoms can include episodes of vomiting and diarrhea, growth retardation, respiratory problems, poor feeding habits and failure to thrive (Austin et al., 2016).

Diagnosis for argininemia involves testing for elevated levels of arginine in the blood or urine by performing biochemical tests such as plasma amino acid analysis. Genetic testing can also be used to identify mutations related to this condition.

Treatment typically involves providing adequate nutrition along with medications or supplements that help reduce any accompanying symptoms that may occur due to this disorder such as seizures or difficulty walking. Prognosis tends to vary from one individual to another but generally speaking many affected people are able lead normal lives without major complications arising from it.( Austin et al., 2016).