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Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin
Author(s) -
Kaufman Seymour,
Kapatos Gregory,
Rizzo William B.,
Schulman Joseph D.,
Tamarkin Lawrence,
van Loon Glen R.
Publication year - 1983
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410140309
Subject(s) - homovanillic acid , tetrahydrobiopterin , hyperphenylalaninemia , pterin , biopterin , medicine , cerebrospinal fluid , endocrinology , chemistry , neurochemical , phenylalanine , cofactor , biochemistry , serotonin , amino acid , enzyme , receptor
A patient with hyperphenylalaninemia caused by a defect in the synthesis of tetrahydrobiopterin was treated with 6‐methyltetrahydropterin. This synthetic analog of the naturally occurring hydroxylation cofactor tetrahydrobiopterin, when given orally at a daily dose of 20 mg per kilogram of body weight increased depressed plasma and cerebrospinal fluid levels of norepinephrine. At a daily dose of 8 mg/kg, this pterin increased depressed cerebrospinal fluid levels of the biogenic amine metabolites dihydroxyphenylacetic acid, homovanillic acid, and 5‐hydroxyindoleacetic acid. At these doses of 6‐methyltetrahydropterin, there was an improvement of the patient's neurological symptoms, including a pronounced decrease in eye rolling and drooling and a marked increase in muscle strength, coordination, and physical activity.