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Regardless of the nebulous causes of autism spectrum disorders, the pathophysiology of the disease is generally agreed on to consist of certain neurotransmitter impairments, and/or disruptions of normal brain and central nervous system development (Hettinger et al. 2007). Certain case studies suggest that disruptions in the pathway concerning purine metabolism can have a detrimental effect on the development of other pathways in the central nervous system, possibly causing autism spectrum disorders (Hettinger et al. 2007). These case studies do not provide enough evidence by themselves that purine metabolism can be implicated in autism development, however.

In order to make an actual determination as to the relationship between purine metabolism and autism spectrum disorders, this research involved testing a gene known to affect purine metabolism and that therefore had a possible connection to causing autism (Hettinger et al. 2007). Specifically, the researchers identified the adenosine deaminase gene as the possible culprit for some cases of autism spectrum disorder linked to urine metabolism, as other issues with this gene develop similar metabolic and construction problems with other proteins and enzymes (Hettinger et al. 2007). Previous studies had noticed some correlation in sub-standard operation of this gene and certain cases and types of autism spectrum disorder, though there was not enough evidence to establish a causal relationship (Hettinger et al. 2007). This study was one of the first to directly examine the gene and its relationship to autism (Hettinger et al. 2007).

In order to test this relationship, the researchers gathered information on 126 different sibling pairs, all of whom came from families where two or more children had autism or an autism spectrum disorder, including the extent and type of their disorder and the measuring of certain genetic markers (Hettinger et al. 2007). These results were then compared to the genetic results of a control group of comparable size, and the differences in genetic makeup between the two groups were analyzed to determine any noticeable differences (Hettinger et al. 2007). Unfortunately, the evidence was still basically inconclusive; although there is some indication that the gene can have an effect on certain types of autism spectrum disorders, there was not a significant enough difference in the expression of the specific gene in question to establish a firm relationship (Hettinger et al. 2007).