Lofenelac is given to patients with this disease, some sufferers of which respond to sapropterinhydrochloride.
Lofenelac is given to patients with this disease, some sufferers of which respond to sapropterinhydrochloride. Many cases of this disease are due to a mutation of a 5' splice donor site of intron 12 inthe affected gene. A variant of this disorder is caused by mutations of DHBR that inhibittetrahydrobiopterin recycling. One test for this disease takes a drop of blood on a disk of filter paper,then places it on an agar plate containing B. subtilis. Its phenotype arises due to shunting intotransamination pathways, whose products can cross the (*) blood-brain barrier. Infants affected withthis disorder, which is diagnosed using tandem mass spectrometry, have a mousy order to their sweat.Caused by a mutation in the PAH gene, this disorder is treated using a restricted diet. For 10 points,name this inborn error of metabolism in which people cannot produce tyrosine from phenylalanine.
Lofenelac is given to patients with this disease, some sufferers of which respond to sapropterinhydrochloride.
phenylketonuria or PKU