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kuvan is used to treat hyperphenylalaninaemia (hpa) or phenylketonuria (pku) in adults and children of all ages.
kuvan huwa użat biex jikkura l-hyperphenylalaninaemia (hpa) jew phenylketonuria (pku) f’adulti u fi tfal ta’ kull età.
Laatste Update: 2017-04-26
Gebruiksfrequentie: 1
Kwaliteit:
hyperphenylalaninaemia (hpa) is diagnosed as an abnormal elevation in blood phenylalanine levels and is usually caused by autosomal recessive mutations in the genes encoding for phenylalanine hydroxylase enzyme (in the case of phenylketonuria, pku) or for the enzymes involved in 6r-tetrahydrobiopterin (6r- bh4) biosynthesis or regeneration (in the case of bh4 deficiency).
f’hyperphenylalaninaemia (hpa) ikun hemm żieda anormali fil-livelli ta’ phenylalanine fid-demm li hija normalment ikkawżata b’mutazzjonijiet awtosomali reċessivi involuti fil-konverżjoni tal-ġeni għall-enżima phenylalanine hydroxylase (f’kaz ta’ phenylketonuria, pku) jew għall-enżimi nvoluti fil-bijosintesi 6r-tetrahydrobiopterin jew fir-riġenerazzjoni (f’każ ta’ defiċjenza bh4).
Laatste Update: 2017-04-26
Gebruiksfrequentie: 3
Kwaliteit: