6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
Ann Neurol
; 58(1): 164-7, 2005 Jul.
Article
em En
| MEDLINE
| ID: mdl-15984017
ABSTRACT
Severe 6-pyruvoyl-tetrahydrobiopterin synthase deficiency is a tetrahydrobiopterin deficiency disorder that presents in infancy with developmental delay, seizures, and abnormal movements associated with hyperphenylalaninemia usually detectable by neonatal phenylketonuria screening programs. We describe an 8-year-old girl with delay, seizures, and dystonia with mild hyperphenylalaninemia detected in late childhood. The diagnosis of 6-pyruvoyl-tetrahydrobiopterin synthase deficiency was made by analysis of pterins in urine, pterins and neurotransmitters in cerebrospinal fluid, and enzyme assay. The patient improved clinically taking oral tetrahydrobiopterin, levodopa/carbidopa, and 5-hydroxytryptophan. This treatable condition may not always be detected by routine population screening for hyperphenylalaninemia.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenilcetonúrias
/
Fósforo-Oxigênio Liases
/
Erros de Diagnóstico
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
/
Etiology_studies
Limite:
Child
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Female
/
Humans
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Canadá