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  • Title: Liver enzyme activities in hyperphenylalaninaemia due to a defective synthesis of tetrahydrobiopterin.
    Author: Dhondt JL, Cotton RG, Danks DM.
    Journal: J Inherit Metab Dis; 1985; 8(2):47-8. PubMed ID: 3939528.
    Abstract:
    This report confirms the accumulation of neopterin and the low biopterin concentration in the liver of a "biopterin-synthetase" deficient patient. Enzymatic studies suggest that the defect lies between the "X"-compound (6-pyruvoyl-tetrahydropterin?) and tetrahydrobiopterin and that pterin found in the patient's liver arises from the "X"-compound.
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