Dihydrobiopterin synthesis defect

An adult with diurnal fluctuation of symptoms

Tanaka, K. MD
Yoneda, M. MD
Nakajima, T. MD
Miyatake, T. MD
Owada, M. MD

Department of Neurology (Drs. Tanaka, Yoneda, Nakajima, and Miyatake), Brain Research Institute, Niigata University, Niigata; and the Department of Pediatrics (Dr. Owada), Nihon University School of Medicine, Chiyoda-ku, Japan.

Address correspondence and reprint requests to Dr. Tanaka, Department of Neurology, Brain Research Institute, Niigata University, Asahimachi-I, Niigata, 951 Japan.

Received March 12, 1986. Accepted for publication in final form duly 2, 1986.

Neurology 37(3):p 519-522, March 1987.

Article abstract

A deficiency of dihydrobiopterin synthesis was found in a 27-year-old man with mild mental retardation, rigid spasticity, hyperreflexia, dystonia, myoclonus, and delay in the initiation of action, since age 10. Symptoms improved after sleep. Urine contained large amounts of neopterin and a trace of biopterin. Dihydropteridine reductase activity in red blood cells was normal. CSF levels of HVA and 5-HIAA were low. Tetrahydrobiopterin administration lowered serum phenylalanine and improved the symptoms.