Neopterin and biopterin concentrations in cerebrospinal fluid in controls less than 1 year old

Neopterin and biopterin concentrations were measured in cerebrospinal fluid (CSF) and urine samples from controls less than 1 year old. This is the first time for CSF reference data for controls less than 1 year old to be reported. The ratio of neopterin to biopterin in CSF 0–30 days (n=48) of age in control samples was 0.65±0.31 (SD), which was far lower than that in urine over the same time period, 4.0±1.9 (SD), (n=51). This finding is very important when diagnosing 6-pyruvoyltetrahydropterin synthase (PTPS) deficiency and peripheral form of PTPS deficiency in the neonatal period. Our CSF reference data for controls should be useful in the diagnosis of PTPS deficiency