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6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia



6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia



Annals of Neurology 58(1): 164-167



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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Accession: 011673665

Download citation: RISBibTeXText

PMID: 15984017

DOI: 10.1002/ana.20532


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