OBJECTIVE: To describe three unrelated @entity1 with a distinctive variant of @entity16282 ( @entity16282 ) characterized by @entity4242 , severe @entity1032 , @entity910 or @entity508 , and occasional @entity410 . RESULTS: Neuroimaging showed bilateral @entity62 . @entity2841 @entity413 , protein, cell count, and interferon alpha were normal. Abnormal @entity2841 findings included extremely high @entity6421 (293 to 814 nmol/L; normal 12 to 30 nmol/L) and @entity33222 (226 to 416 nmol/L; normal 15 to 40 nmol/L) combined with lowered @entity7615 (23 to 48 nmol/L; normal 64 to 182 nmol/L) concentrations in two @entity1 . The absence of pleocytosis and normal @entity2841 interferon alpha was a characteristic finding compared to the @entity16282 . Genetic and enzymatic tests excluded disorders of @entity8083 metabolism, including mutation analysis of @entity3007 cyclohydrolase feed-back regulatory protein. @entity2841 investigations in three @entity1 with classic @entity16282 also showed increased pterins and partially lowered @entity1501 levels. CONCLUSIONS: Intrathecal overproduction of pterins is the first biochemical abnormality identified in @entity1 with @entity16282 variants. Long-term substitution with @entity4181 (2-4 mg/kg/day) resulted in substantial clinical recovery with normalization of @entity2841 folates and pterins in one @entity1 and clinical improvement in another. The underlying defect remains unknown.

Cerebrospinal fluid pterins and folates in XXXX : a new phenotype.

@entity1 :: ('9606', 'Species') :: ['patient', 'children', 'patients'] @entity3007 :: ('MESH:D006160', 'Chemical') :: ['GTP'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental and motor retardation'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizures'] @entity6421 :: ('MESH:D019798', 'Chemical') :: ['neopterin'] @entity16282 :: ('MESH:D058540', 'Disease') :: ['AGS', 'classic AGS syndrome', 'Aicardi-Gouti  res syndrome'] @entity8083 :: ('MESH:C003402', 'Chemical') :: ['tetrahydrobiopterin'] @entity1501 :: ('MESH:D005492', 'Chemical') :: ['folate'] @entity4181 :: ('MESH:D002955', 'Chemical') :: ['folinic acid'] @entity508 :: ('MESH:D009128', 'Disease') :: ['spasticity'] @entity910 :: ('MESH:D004409', 'Disease') :: ['dyskinesia'] @entity7615 :: ('MESH:C005984', 'Chemical') :: ['5-methyltetrahydrofolate'] @entity4242 :: ('MESH:D008831', 'Disease') :: ['microcephaly'] @entity33222 :: ('MESH:D001708', 'Chemical') :: ['biopterin'] @entity62 :: ('MESH:D056784', 'Disease') :: ['calcification of basal ganglia and white matter'] @entity2841 :: ('1437', 'Gene') :: ['CSF'] @entity413 :: ('MESH:D005947', 'Chemical') :: ['glucose']
@entity16282 :: (MESH:D058540,Disease) :: ['Aicardi-Gouti  res syndrome']
