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- W2042448696 abstract "DHPRD causes hyperphenylalaninemia and reduction of neuro-transmitters (NT) due to tetrahydrobiopterin (BH4) deficiency. Past attempts at therapy have included replacement of NT, BH4, or both. Therapy with FA, in addition to NT, resulted in an encouraging clinical outcome in two DHPRD siblings (AJHG 36:13S, 1984). We now report studies of the use of FA (25mg daily) alone in a 9 year old patient who failed conventional NT therapy and who has profound neurologic impairment. Within several weeks he became more alert and his seizure frequency diminished. CSF NT metabolite levels (ng/ml) were as follows: Thus, CSF norepinephrine (NE) and dopamine (DA) increased, while MHPG and HVA (NE and DA metabolites) declined. There was no clear trend in 5-HIAA (the serotonin metabolite). FA seems to be clinically beneficial in DHPRD. This may be related to an increase in the level of CNS catecholamine NT. This increase may result from either stimulation of NT synthesis by FA, or perhaps more likely, reduction in NT degradation through MAO inhibition by FA" @default.
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- W2042448696 date "1985-04-01" @default.
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- W2042448696 title "832 FOLINIC ACID (FA) THERAPY IN DIHYDROPTERIDINE REDUCTASE DEFICIENCY (DHPRD)" @default.
- W2042448696 doi "https://doi.org/10.1203/00006450-198504000-00862" @default.
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