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Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency.
Liu, Kai-Ming; Liu, Tze-Tze; Lee, Ni-Chung; Cheng, Ling-Yee; Hsiao, Kwang-Jen; Niu, Dau-Ming.
Afiliação
  • Liu KM; Insitute of Clinical Medicine, School of Medicine, Taipei, Taiwan.
Arch Neurol ; 65(3): 387-92, 2008 Mar.
Article em En | MEDLINE | ID: mdl-18332253
OBJECTIVE: To report the long-term results of early initiation of treatment of 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. DESIGN: Between 1988 and 2000, 12 newborns with PTPS deficiency who underwent early treatment at our hospital were identified. All patients received tetrahydrobiopterin replacement in a daily dosage between approximately 2 and 4 mg/kg. The dosages of levodopa replacement were 10 to 15 mg/kg/d, which is considerably higher than the typically recommended dosages of less than 7 mg/kg/d for patients aged younger than 2 years and 8 to 10 mg/kg/d for patients aged 2 years or older. Replacement with 5-hydroxytryptophan varied widely among patients. SETTING: Taipei Veterans General Hospital. Patients Twelve newborns. INTERVENTIONS: Treatment with tetrahydrobiopterin, levodopa, and 5-hydroxytryptophan. Main Outcome Measure IQ score. RESULTS: The mean (SD) IQ score of our PTPS-deficient patients was 96.7 (9.7; range 86-119), which is considerably higher than previous reports of other populations of PTPS-deficient patients. All patients reached a normal IQ on high daily dosages of levodopa replacement, without developing apparent long-term levodopa-induced adverse effects. We also observed a correlation between long-term IQ score and genotype, birth weight, and age at initiation of treatment. CONCLUSIONS: An effective newborn screening referral program and early initiation of appropriate therapy preserved the IQ scores of PTPS-deficient patients.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Pterinas / Levodopa / 5-Hidroxitriptofano / Fósforo-Oxigênio Liases Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2008 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenilcetonúrias / Pterinas / Levodopa / 5-Hidroxitriptofano / Fósforo-Oxigênio Liases Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2008 Tipo de documento: Article