Decrease in 6R-5,6,7,8-tetrahydrobiopterin content in cerebrospinal fluid of autistic patients

Neurosci Lett. 1994 Nov 7;181(1-2):169-72. doi: 10.1016/0304-3940(94)90586-x.


The levels of pterin compounds in the lumbar cerebrospinal fluid (CSF) of ten neurologically normal and twenty autistic children were measured by two different liquid chromatographic systems, a conventional and a newly developed direct method. Among pterin compounds 7,8-dihydroneopterin (NH2) and 6R-5,6,7,8-tetrahydrobiopterin (R-BH4) levels in autistic children were significantly reduced to 66.1 and 41.5%, respectively, of those found in the controls. The autistic children were divided into three subgroups according to their CSF homovanillic acid (HVA) level and age: the group with an elevated HVA level, the younger (< 7 year old) group with a normal HVA level, and the older (> 7 year old) group with a normal HVA level. In comparison, the further reduction was observed in NH2 and R-BH4 levels in the younger group and in the 7,8-dihydropterin (PH2) level in the group with an elevated HVA level. Thus, these results suggest that the endogenous biosynthesis of R-BH4 in the brain may be reduced in autistic children as compared with that in neurologically normal children.

MeSH terms

  • Adolescent
  • Adult
  • Aging / cerebrospinal fluid
  • Autistic Disorder / cerebrospinal fluid*
  • Biopterin / analogs & derivatives*
  • Biopterin / cerebrospinal fluid
  • Child
  • Child, Preschool
  • Female
  • Homovanillic Acid / cerebrospinal fluid
  • Humans
  • Male
  • Neopterin


  • Biopterin
  • Neopterin
  • sapropterin
  • Homovanillic Acid