The recent widespread screening for phenylketonuria among newborn infants has lead to the recognition that not all instances of hyperphenylalanemia is caused by phenylketonuria (PKU). Thispaper ...
The enzyme phenylalanine hydroxylase is almost exclusively limited to the liver although some activity may be found in the kidney and the intestinal mucosa. Determination of this enzyme activity ...
The American College of Medical Genetics and Genomics has just published its highly anticipated Evidence-Based Clinical Guideline (EBG): “Phenylalanine Hydroxylase (PAH) Deficiency Diagnosis and ...
"Phenylalanine hydroxylase has long been known to be regulated by allosteric factors, but we didn't know what those factors were until now. This represents the first identification of a non-substrate ...
The FDA approved sepiapterin (Sephience) for the treatment of children and adults with phenylketonuria (PKU), PTC Therapeutics announced. The approval includes broad labeling for the treatment of ...
The latest short science news items from C&EN. Most folks never need to think about their phenylalanine levels. But about 1 in 16,000 people in the US are born with a faulty phenylalanine hydroxylase ...
Phenylketonuria (PKU) is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to ...
Phenylketonuria (PKU) is a rare genetic condition that affects how your body processes an amino acid called phenylalanine (Phe). People with PKU have low levels or missing activity of an enzyme called ...
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