Neopterin and Biopterin Levels in Patients with Atypical Forms of Phenylketonuria
| Autor: | Sheldon Milstien, Jon C. Nixon, Klaus Bartholomé, Ching-Lun Lee, Seymour Kaufman |
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| Rok vydání: | 1980 |
| Předmět: |
endocrine system
medicine.medical_specialty Phenylalanine hydroxylase Phenylalanine Urinary system Biopterin Urine Neopterin Biochemistry Cellular and Molecular Neuroscience chemistry.chemical_compound Hyperphenylalaninemia immune system diseases Phenylketonurias Internal medicine medicine Humans In patient Amino Acid Metabolism Inborn Errors Chromatography High Pressure Liquid biology business.industry Pteridines Dihydropteridine Reductase medicine.disease Endocrinology Liver chemistry biology.protein business hormones hormone substitutes and hormone antagonists |
| Zdroj: | Journal of Neurochemistry. 35:898-904 |
| ISSN: | 1471-4159 0022-3042 |
| DOI: | 10.1111/j.1471-4159.1980.tb07088.x |
| Popis: | The pattern of unconjugated pterins in liver tissue and in urine from patients with atypical forms of phenylketonuria with hyperphenylalaninemia (HPA) has been investigated with a high performance liquid chromatographic technique. Two patients with defects in the biosynthesis of biopterin have been shown to have higher than normal levels of neopterin and lower than normal levels of biopterin. In contrast, a patient with HPA due to a deficiency of dihydropteridine reductase has the reverse urinary pattern, i.e., high biopterin, low neopterin. These results indicate that the ratio of neopterin to biopterin in urine can be of value in discriminating between HPA due to a deficiency of phenylalanine hydroxylase (classic PKU), HPA due to dihydropteridine reductase deficiency, and HPA due to a block in the biosynthesis of biopterin. |
| Databáze: | OpenAIRE |
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