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
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients
β Scribed by Takuji Imamura; Y. Okano; Haruo Shintaku; Yutaka Hase; Gen Isshiki
- Publisher
- Nature Publishing Group
- Year
- 1999
- Tongue
- English
- Weight
- 165 KB
- Volume
- 44
- Category
- Article
- ISSN
- 1435-232X
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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