An assay for a GCH1 allele and associated genotype for the screening,
prediction, diagnosis, prognosis, treatment and treatment response of
psychiatric, neuropsychiatric, and neurological disorders, such as
schizophrenia, schizoaffective disorder and bipolar disorder, and for
defining treatments of such disorders. The presence of a variant in the
GCH1 gene, alone or in conjunction with a measurement of low or altered
biopterin, or altered BH4 system measures, is used to screen for or
diagnose subjects at high risk for developing a psychiatric,
neuropsychiatric, or neurological disorders. The assay of the GCH1
genotype, with or without biopterin or a BH4 or BH4 system assay, may
also be used to determine antipsychotic or mood stabilizer medication, as
well as other treatments. For subjects with an impaired BH4 system,
treatments to increase or normalize biopterin, BH4, or the BH4 system can
also be used, such as BH4 supplementation, lithium treatment,
phenylalanine treatment, or other treatments and therapies.