We have identified deficient biopterin synthesis in four probands and one sib with persistent postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign clinical presentation and normal biopterin level in cerebrospinal fluid in the newborn period, indicating the peripheral
Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype
β Scribed by A. Ponzone; N. Blau; O. Guardamagna; G. B. Ferrero; I. Dianzani; W. Endres
- Publisher
- Springer
- Year
- 1990
- Tongue
- English
- Weight
- 241 KB
- Volume
- 13
- Category
- Article
- ISSN
- 0141-8955
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## Abstract We report the case of a 44βyearβold woman with a partial 6βpyruvoyl tetrahydropterin synthase (6βPTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremitie
6-Pyruvoyl-tetrahydropterin synthase (PTS), a key enzyme in the synthesis of tetrahydrobiopterin in man, is defective in the most frequent variant of tetrahydrobiopterin-deficient hyperphenylalaninaemia (atypical phenylketonuria). An assay for PTS activity in erythrocytes was developed. It is based
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