Biopterin synthesis defects: problems in diagnosis.

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 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 biopterin synthesis defect(s).

journal_name

Pediatrics

journal_title

Pediatrics

authors

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

subject

Has Abstract

pub_date

1984-12-01 00:00:00

pages

1004-11

issue

6

eissn

0031-4005

issn

1098-4275

journal_volume

74

pub_type

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