Article
Does the 48-hour BH4 loading test miss responsive PKU patients?
Molecular genetics and metabolism - 1 Mar 2020
van Wegberg Annemiek M J, Evers Roeland A F, van Dam Esther, de Vries Maaike C, Janssen Mirian C H, Heiner-Fokkema M Rebecca, van Spronsen Francjan J
Abstract excerpt
BACKGROUND: Phenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism. Besides dietary treatment, some patients are responsive to and treated with tetrahydrobiopterin (BH4). Our primary objective was to examine whether the 48-hour BH4 loading test misses BH4-responsive PKU patients. Secondary, we assessed if it would be beneficial to 1) use a cut-off value of 20% Phe reduction instead of commonly...
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