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6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia
Author(s) -
Demos Michelle K.,
Waters Paula J.,
Vallance Hilary D.,
Lillquist Yolanda,
Makhseed Nawal,
Hyland Keith,
Blau Nenad,
Connolly Mary B.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20532
Subject(s) - hyperphenylalaninemia , tetrahydrobiopterin , biopterin , carbidopa , endocrinology , medicine , cerebrospinal fluid , dystonia , zolmitriptan , phenylalanine , levodopa , chemistry , psychiatry , biochemistry , nitric oxide synthase , disease , parkinson's disease , amino acid , receptor , sumatriptan , nitric oxide , agonist
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. Ann Neurol 2005;58:164–167