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
Pediatricsjournal_title
Pediatricsauthors
Hoganson G,Berlow S,Kaufman S,Milstien S,Schuett V,Matalon R,Naylor E,Seifert Wsubject
Has Abstractpub_date
1984-12-01 00:00:00pages
1004-11issue
6eissn
0031-4005issn
1098-4275journal_volume
74pub_type
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