Article
Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.
Molecular genetics and metabolism - 1 Sept 2012
Tansek Mojca Zerjav, Groselj Urh, Murko Simona, Kobe Helena, Lampret Barbka Repic, Battelino Tadej
Abstract excerpt
A BH(4) loading test was performed in 36 patients from 34 unrelated families. The patients had 29 different genotypes, and previous data on only eight of them were found in the BIOPKU database. Thirteen patients were classified as classic PKU (35.1%), 14 as mild PKU (37.8%) and 9 as MHP (27.0%). Blood Phe levels were shown to reach a plateau after three full days of increased natural protein ingestion. Measuring...
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