Neopterin and Biopterin Levels in Patients with Atypical Forms of Phenylketonuria
作者： Jon C. Nixon , Ching-Lun Lee , Sheldon Milstien† , Seymour Kaufman , Klaus Bartholomé
DOI: 10.1111/J.1471-4159.1980.TB07088.X
关键词: Dihydropteridine Reductase 、 Urinary system 、 Neopterin 、 In patient 、 Hyperphenylalaninemia 、 Medicine 、 Phenylalanine hydroxylase 、 Internal medicine 、 Endocrinology 、 Biopterin 、 Urine
摘要: The pattern of unconjugated pterins in liver tissue and urine from patients with atypical forms phenylketonuria hyperphenylalaninemia (HPA) has been investigated a high performance liquid chromatographic technique. Two defects the biosynthesis biopterin have shown to higher than normal levels neopterin lower biopterin. In contrast, patient HPA due deficiency dihydropteridine reductase reverse urinary pattern, i.e., biopterin, low neopterin. These results indicate that ratio can be value discriminating between phenylalanine hydroxylase (classic PKU), deficiency, block
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