Autism

Is there is a purinergic explanation for autism? Autistic thought process was described as a correlate of schizophrenia prior to the establishment of a separate autism diagnosis. Borderline personality disorder, especially in cases that include dissociative symptoms, is also associated with autistic thought process.  IMG

Metabolic syndrome is quite common in patients with autism, including obesity, insulin resistance, and high cholesterol: to the extent that screening for abnormal cholesterol is recommended in autistic teens, but not until middle age in those without autism. Abnormal cholesterol in the mother increases the risk of having an autistic child PMID 32778826.  Although rare, Smith-Lemli-Opitz syndrome is a subtype of autism that shows reversal of autistic symptoms with normalization of cholesterol levels.  IMG

Excess stimulation in autism can be understood as analogous to an endogenous source of caffeine.  This would be expected to inhibit PNP, consistent with  IMG

There are repeated studies over decades suggesting that higher-than standard doses of pyridoxine are helpful in autism: PMID 345827 6765503, more recently 16846101 although findings have been mixed PMID 9261669, not altogether unexpected in a heterogeneous diagnosis like autism. Accordingly, predictors for pyridoxine-responsiveness have been investigated PMID 30287864.

Other studies have shown that pyridoxine levels are already elevated in autistic patients, with an apparent deficit in phosphorylation activity that activates pyridoxine PMID 16494569. Vitamin B6 deficiency is associated with autism-like behaviors in rats PMID 37200987. Cochrane review notes that the data is too limited to be conclusive PMID 16235322, common for non-patentable interventions. 

More about the apparent mechanism of pyridoxine inhibiting cofactor production for HGPRT and XPRT here. Non-purine hypotheses for why B6 is helpful in autism PMID 29685187.