[Atypical form of phenylketonuria caused by lack of dihydrobiopterin synthetase activity].

Abstract

A case of non-typical phenylketonuria produced by the inactivity of dihydrobiopterin synthetases is presented. Dihydrobiopterin synthetases are enzymes converting neopterin to biopterin. Presented case indicates a possibility of erroneous classification of hyperphenylalaninemia due to BH4 deficit, if the complete differential diagnosis is not performed. A complete differential diagnosis is necessary in all cases of hyperphenylalaninemia distinguished in neonates during screening tests.

• Authors: M Słowik, T Mańkowski
• Journal: Polski tygodnik lekarski (Warsaw, Poland : 1960) (Pol Tyg Lek) 1992 Mar 2-9 Vol. 47 Issue 9-10 Pg. 236-7 ISSN: 0032-3756 [Print] Poland
• Vernacular Title: Nietypowa postać fenyloketonurii spowodowana brakiem aktywności syntetazy dihydrobiopterynowej.
• PMID: 1437828 (Publication Type: Case Reports, Comparative Study, English Abstract, Journal Article)

Chemical References

• Biopterin
• Phenylalanine
• 7,8-dihydrobiopterin synthetase
• Alcohol Oxidoreductases

Topics

• Alcohol Oxidoreductases (deficiency)
• Biopterin (urine)
• Diagnosis, Differential
• Humans
• Infant
• Male
• Phenylalanine (blood)
• Phenylketonurias (classification, diagnosis, etiology, metabolism)