Article
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Molecular genetics and metabolism - 1 Jul 2009
Karacić Iva, Meili David, Sarnavka Vladimir, Heintz Caroline, Thöny Beat, Ramadza Danijela Petković, Fumić Ksenija, Mardesić Dusko, Barić Ivo, Blau Nenad
Abstract excerpt
Specific mutations in the gene encoding phenylalanine hydroxylase (PAH), located on chromosome 12q22-24.1, are linked to tetrahydrobiopterin (BH4; sapropterin)-responsive phenylketonuria (PKU). Diagnosis is usually done through the newborn screening for PKU, followed by a BH4 loading test. So far, more than 60 mutant alleles, presenting with a substantial residual PAH activity (average approximately 47%), were...
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