PMID: 6112253May 1, 1981Paper

Neurotransmitter defects and treatment of disorders of hyperphenylalaninemia

The Journal of Pediatrics
I J ButlerR R Howell

Abstract

The disordered biosynthesis of dopamine, norepinephrine, and serotonin in brain in untreated PKU is corrected by dietary restriction of phenylalanine. Low levels of biogenic amine metabolites were measured in cerebrospinal fluid from three patients with classical PKU; metabolite concentrations increased after dietary treatment. In a variant of hyperphenylalaninemia caused by deficiency of dihydropteridine reductase, there is defective metabolism of biogenic amines despite dietary restriction of phenylalanine. Two siblings with DHPR deficiency had low amine metabolite values in CSF; in one patient the metabolic defect was corrected by administration of hydroxylated amino acid precursors. Defective biosynthesis of biogenic amines in brain in disorders associated with hyperphenylalaninemia and evaluation of specific dietary treatments can be determined by analysis of neurotransmitter metabolites in CSF.

References

Mar 1, 1978·Annals of Neurology·I J ButlerS Kaufman
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Aug 1, 1961·Proceedings of the Society for Experimental Biology and Medicine·H L NADLER, D Y HSIA

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Citations

Jan 1, 1988·Journal of Inherited Metabolic Disease·M GiovanniniG B Picotti
Jan 1, 1988·Journal of Inherited Metabolic Disease·M GiovanniniR Longhi
Jan 1, 1985·Journal of Inherited Metabolic Disease·S Kaufman
Jan 1, 1989·Journal of Inherited Metabolic Disease·D VillasanaS M Roongta
Apr 28, 2004·Molecular Genetics and Metabolism·Sareen S GropperDenis M Medeiros
May 1, 1992·Journal of Neurology, Neurosurgery, and Psychiatry·P A McCombeM P Pender
Jan 1, 2014·PloS One·Tiziana PascucciStefano Puglisi-Allegra
Feb 5, 2009·Journal of Inherited Metabolic Disease·F J van SpronsenDirk-Jan Reijngoud
Oct 27, 2010·Journal of Inherited Metabolic Disease·Francjan J van SpronsenMargreet van Rijn
Aug 12, 2009·The International Journal of Neuropsychopharmacology·Tiziana PascucciSimona Cabib
Mar 1, 1994·The Journal of Pediatrics·M D RisN Leslie
Jul 1, 1984·Medicinal Research Reviews·W L ArmaregoP Waring
Feb 2, 2019·Journal of Inherited Metabolic Disease·Andrea PilottoFriedrich Trefz
May 28, 2020·Orphanet Journal of Rare Diseases·Thomas OpladenUNKNOWN International Working Group on Neurotransmitter related Disorders (iNTD)
Feb 7, 2017·Journal of Clinical and Experimental Neuropsychology·Claudia CaprileJordi Navarra
Sep 1, 2018·Orphanet Journal of Rare Diseases·Denise Leonne HofmanLouise Dye

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