Biopterin synthesis defects: Problems in diagnosis

G. Hoganson, S. Berlow, S. Kaufman, S. Milstien, V. Schuett, R. Matalon, E. Naylor, W. Seifert

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Hyperphenylalaninemia due to a biopterin synthesis defect was detected in an infant with decreased biopterin and increased neopterin levels in plasma and urine. Tetrahydrobiopterin (BH4) administration normalized plasma phenylalanine levels. CSF biopterin and neurotransmitter metabolite levels were normal and with the infant's normal growth and development suggest that the defect in biopterin synthesis did not not affect CNS biopterin metabolism. Comparison of plasma and urine pterin levels from this patient with levels reported in patients who have neurologic complications fails to reveal differences that would distinguish patients at risk for neurologic problems. CSF pterin and neurotransmitter levels may correlate with neurologic function in these patients. CSF pterin and neurotransmitter determinations should be performed prior to initiation of neurotransmitter precursor and BH4 replacement therapies in patients who were determined to have diopterin synthesis defect(s).

Original languageEnglish (US)
Pages (from-to)1004-1011
Number of pages8
Issue number6
StatePublished - 1984
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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