Determination of urinary pterins for diagnosis of hyperphenylalaninemia variant forms.
| Authors | |
|---|---|
| Year of publication | 1999 |
| Type | Article in Periodical |
| Magazine / Source | Scripta medica |
| MU Faculty or unit | |
| Citation | |
| Field | Other medical specializations |
| Keywords | hyperphenylalaninemia; atypical phenylketonuria; pterins |
| Description | Rare inherited diseases with partial defects in tetrahydrobiopterin biosynthesis or recycling lead to hyperphenylalaninemia caused by lack of sufficient cofactor for phenylalanine hydroxylase. The assessment of urinary pterins proposed as an essential test for accurate diagnosis was used in this study to identify potential variants of hyperphenylalaninemia in clinicaly confirmed cases (9 children) with only one mutation in the phenylalanine hydroxylase gene. |
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