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
Prenatal diagnosis of 6-pyruvoyl tetrahydropterin synthase deficiency in seven subjects
β Scribed by H. Shintaku; K. J. Hsiao; T. T. Liu; T. Imamura; Y. Hase; R. G. Chen; G. Isshiki; T. Oura
- Publisher
- Springer
- Year
- 1994
- Tongue
- English
- Weight
- 219 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0141-8955
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## Abstract Little information is available on the longβterm course and adult outcome of patients with 6βpyruvoylβtetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32βyearβold woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and in