Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin

Seymour Kaufman, Gregory Kapatos, William B. Rizzo, Joseph D. Schulman, Lawrence Tamarkin, Glen R. van Loon

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)308-315
Number of pages8
JournalAnnals of Neurology
Volume14
Issue number3
DOIs
StatePublished - Sep 1983

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Phenylketonurias
Cerebrospinal Fluid
Pterins
Sialorrhea
Homovanillic Acid
Acids
Biogenic Amines
Muscle Strength
Hydroxylation
Norepinephrine
Body Weight
Exercise
Therapeutics
tetrahydropterin
sapropterin

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin. / Kaufman, Seymour; Kapatos, Gregory; Rizzo, William B.; Schulman, Joseph D.; Tamarkin, Lawrence; van Loon, Glen R.

In: Annals of Neurology, Vol. 14, No. 3, 09.1983, p. 308-315.

Research output: Contribution to journalArticle

Kaufman, Seymour ; Kapatos, Gregory ; Rizzo, William B. ; Schulman, Joseph D. ; Tamarkin, Lawrence ; van Loon, Glen R. / Tetrahydropterin therapy for hyperphenylalaninemia caused by defective synthesis of tetrahydrobiopterin. In: Annals of Neurology. 1983 ; Vol. 14, No. 3. pp. 308-315.
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