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Phenylketonuria is an inherited genetic disorder. It is caused by mutations in the PAH gene, which can result in inefficient or nonfunctional phenylalanine hydroxylase, an enzyme responsible for the metabolism of excess phenylalanine. This results in the buildup of dietary phenylalanine to potentially toxic levels.
Phenylalanine hydroxylase (PAH) (EC 1.14.16.1) is an enzyme that catalyzes the hydroxylation of the aromatic side-chain of phenylalanine to generate tyrosine.PAH is one of three members of the biopterin-dependent aromatic amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin (BH 4, a pteridine cofactor) and a non-heme iron for catalysis.
Phenylketonuria (PKU)-like symptoms, including more pronounced developmental defects, skin irritation, and vomiting, may appear when phenylalanine levels are near 20 mg/dL (1200 mol/L). [1] Hyperphenylalaninemia is a recessive hereditary metabolic disorder that is caused by the body's failure to convert phenylalanine to tyrosine as a result of ...
The foundations for dietary restrictions were laid down by George Jervis and Host Bickel which is still one of the best ways to treat PKU. However, this very practice of excluding phenylalanine from the diet was not working for other forms of HPA. This was attributed to a deficiency of tetrahydrobiopterin (BH4), a cofactor for PAH. [14]
Due to newborn screening, doctors are able to detect PKU in a baby sooner. This allows them to start treatment early, preventing the baby from suffering from the severe effects of PKU. PKU is caused by a mutation in the PAH gene, whose role is to instruct the body on how to make phenylalanine hydroxylase.
Richard contributed greatly to identification of the genes for phenylketonuria (PKU) and its variants by conceiving, planning and executing myeloma studies, conceiving affinity adsorbents for PAH (phenylalanine hydroxylase, the enzyme deficient in PKU) & DHPR (di-hydro-folate reductase, also involved in PKU), as well as contributing to tests ...
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