6-pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.
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.
Demos
Michelle K
MK
Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of British Columbia, Vancouver, Canada. mdemos@cw.bc.ca
Waters
Paula J
PJ
Vallance
Hilary D
HD
Lillquist
Yolanda
Y
Makhseed
Nawal
N
Hyland
Keith
K
Blau
Nenad
N
Connolly
Mary B
MB
D006916:5-Hydroxytryptophan / Q000627:therapeutic use; D001708:Biopterins / Q000031:analogs & derivatives / Q000627:therapeutic use; D002230:Carbidopa / Q000627:therapeutic use; D002547:Cerebral Palsy / Q000175:diagnosis; D002648:Child; D002658:Developmental Disabilities / Q000209:etiology; D003951:Diagnostic Errors; D015259:Dopamine Agents / Q000627:therapeutic use; D005260:Female; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D009069:Movement Disorders / Q000209:etiology; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D019761:Phosphorus-Oxygen Lyases / Q000172:deficiency*; D012640:Seizures / Q000209:etiology
D015259:Dopamine Agents; D001708:Biopterins; D007980:Levodopa; D010649:Phenylalanine; D006916:5-Hydroxytryptophan; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase; C003402:sapropterin; D002230:Carbidopa