Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome.
We evaluated cerebrospinal fluid biogenic amine metabolites in 32 patients with Rett syndrome. Significant reductions were noted in the metabolites of norepinephrine, dopamine, and serotonin, as compared with controls of similar age (p less than 0.001, p less than 0.001, and p less than 0.05, respectively). Tetrahydrobiopterin is an essential cofactor and may be rate-limiting for the synthesis of catecholamines and serotonin. Accordingly, total cerebrospinal fluid biopterin was measured and found to be elevated in patients compared with controls (p less than 0.002). These findings constitute the only biochemical changes detected in Rett syndromes so far.
Zoghbi
H Y
HY
Department of Pediatrics, Baylor College of Medicine, TX 77030.
Milstien
S
S
Butler
I J
IJ
Smith
E O
EO
Kaufman
S
S
Glaze
D G
DG
Percy
A K
AK
D000293:Adolescent; D000641:Ammonia / Q000097:blood*; D001679:Biogenic Amines / Q000134:cerebrospinal fluid*; D001708:Biopterins / Q000031:analogs & derivatives / Q000032:analysis / Q000134:cerebrospinal fluid*; D001923:Brain Chemistry; D002648:Child; D002675:Child, Preschool; D004093:Dihydropteridine Reductase / Q000032:analysis; D005260:Female; D006801:Humans; D007223:Infant; D019798:Neopterin; D019965:Neurocognitive Disorders / Q000134:cerebrospinal fluid*; D012729:Sex Chromosome Aberrations / Q000134:cerebrospinal fluid
D001679:Biogenic Amines; D001708:Biopterins; D019798:Neopterin; D000641:Ammonia; D004093:Dihydropteridine Reductase