Biopterin synthesis defects

Problems in diagnosis

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

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

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
JournalPediatrics
Volume74
Issue number6
StatePublished - 1984
Externally publishedYes

Fingerprint

Biopterin
Pterins
Neurotransmitter Agents
Nervous System
Urine
Neopterin
Phenylketonurias
Phenylalanine
Growth and Development

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Hoganson, G., Berlow, S., Kaufman, S., Milstien, S., Schuett, V., Matalon, R., ... Seifert, W. (1984). Biopterin synthesis defects: Problems in diagnosis. Pediatrics, 74(6), 1004-1011.

Biopterin synthesis defects : Problems in diagnosis. / Hoganson, G.; Berlow, S.; Kaufman, S.; Milstien, S.; Schuett, V.; Matalon, Reuben; Naylor, E.; Seifert, W.

In: Pediatrics, Vol. 74, No. 6, 1984, p. 1004-1011.

Research output: Contribution to journalArticle

Hoganson, G, Berlow, S, Kaufman, S, Milstien, S, Schuett, V, Matalon, R, Naylor, E & Seifert, W 1984, 'Biopterin synthesis defects: Problems in diagnosis', Pediatrics, vol. 74, no. 6, pp. 1004-1011.
Hoganson G, Berlow S, Kaufman S, Milstien S, Schuett V, Matalon R et al. Biopterin synthesis defects: Problems in diagnosis. Pediatrics. 1984;74(6):1004-1011.
Hoganson, G. ; Berlow, S. ; Kaufman, S. ; Milstien, S. ; Schuett, V. ; Matalon, Reuben ; Naylor, E. ; Seifert, W. / Biopterin synthesis defects : Problems in diagnosis. In: Pediatrics. 1984 ; Vol. 74, No. 6. pp. 1004-1011.
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