Expanding the phenotype in argininosuccinic aciduria: need for new therapies

ConclusionsOur study further defines the natural history of argininosuccinic aciduria and genotype –phenotype correlations. The neurological phenotype does not correlate with the severity of hyperammonaemia and plasma argininosuccinic acid levels. The disturbance in nitric oxide synthesis may be a contributor to the neurological disease. Clinical trials providing nitric oxide to the brain merit consideration.

Source: Journal of Inherited Metabolic Disease - February 28, 2017 Category: Internal Medicine Source Type: research