Mental illness in mild PKU responds to biopterin

Molecular Genetics and Metabolism
Richard KochNenad Blau

Abstract

A 25-year-old woman with mild hyperphenylalaninemia developed disabling depression and panic attacks. The mutations on the phenylalanine hydroxylase gene indicated that she might be responsive to tetrahydrobiopterin therapy. Mutation analyses were performed by the John F. Kennedy Institute in Glostrup, Denmark. The response to tetrahydrobiopterin therapy was impressive at an oral dose of 50 mg twice a day. A 25-year-old woman with mild hyperphenylalaninemia due to a PAH mutation of IVS12nt1g-->a/E390G has been treated for 1 year with BH4 therapy. A maintenance dosage of only 100 mg/day has resulted in significant improvement of depression and panic attacks, with discontinuation of psychotropic medication.

References

Sep 15, 1999·The Journal of Pediatrics·S KureK Narisawa
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Sep 12, 2001·Neurology·L BonaféA B Burlina

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Citations

Nov 19, 2002·Current Opinion in Pediatrics·Stephen Cederbaum
Mar 23, 2011·Developmental Medicine and Child Neurology·Jaume CampistolUNKNOWN PKU Follow-up Unit
Jul 9, 2020·Journal of Clinical Psychopharmacology·Ludovic Christophe JeanjeanClément Gendrault
Sep 16, 2003·Journal of Inherited Metabolic Disease·R KochF Guttler
Mar 20, 2003·Biological Psychiatry·Mary Ann RichardsonRaymond F Suckow

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