Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency

Citation
H. Shintaku et al., Diagnosis and treatment of 6-pyruvoyl-tetrahydropterin synthase deficiency, BRAIN DEVEL, 2000, pp. S118-S121
Citations number
10
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Neurology,"Neurosciences & Behavoir
Journal title
BRAIN & DEVELOPMENT
ISSN journal
0387-7604 → ACNP
Year of publication
2000
Supplement
1
Pages
S118 - S121
Database
ISI
SICI code
0387-7604(200009):<S118:DATO6S>2.0.ZU;2-5
Abstract
We detected a case of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficienc y during a neonatal mass screening and considered the differentiation and t reatment of the peripheral form of PTPS deficiency. Although single treatme nt of BH4 had been started, because of the lowered biopterin (B) value, ele vated neopterin (N) value, and N/B ratio in the cerebrospinal fluid (CSF), the peripheral form was judged negative and combined treatment with L-dopa and 5-hydroxy tryptophan (5-HTP) was started. Follow-up study will be neces sary to confirm the diagnosis of PTPS deficiency. (C) 2000 Elsevier Science B.V. All rights reserved.