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Because the activity of the QDPR gene encoded enzyme is also involved in the functions of the tyrosine hydroxylase and tryptophan hydroxylase enzymes, pathogenic variants in the QDPR gene present as atypical hyperphenylalaninemias but are also associated with the potential for microcephaly, hypotonia, intellectual impairment, and convulsions due to neurotransmitter synthesis deficits
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The viability was reduced to 27.3% and 0%, respectively, when compared to cell control (CC, 100%) and cell death (CD, 0%)
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