This paper explores four published articles and four internet websites pertaining to Phenylketonuria. In this paper Phenylketonuria causative mutations, signs and symptoms along with treatment and long term prognosis are discussed to help individuals better understand Phenylketonuria and its effects on our population. Increasing public awareness towards Phenylketonuria can help lead to further research in hopes of medical advancements and encourage newborn screening in under developed countries.
Abbreviations: PHE, Phenylalanine; PAH, Phenylalanine Hydrolase; PKU, Phenylketonuria
Keywords: Phenylanine
Phenylketonuria
The genetic disorder Phenylketonuria effects approximately 1 in 10,000 to 15,000 newborns annually in the United States …show more content…
Treatment requires a strict diet plan and individuals are encouraged to avoid foods high in protein or that contain PHE. Meat, fish, poultry eggs, cheese, milk, dried beans, and peas are among the foods that are discouraged from consumption. (The National PKU Alliance, 2014) Babies and toddlers diagnosed with Phenylketonuria are placed on phenylalanine-free formula due to normal formula and breast milk containing phenylalanine. Depending on the severity of the mutation and the patients amount of PAH production some individuals may have moderately liberal diets without severe increase in Phenylketonuria levels while others must adhere to stricter diet plans. Adults with Phenylketonuria are encouraged to continue drink or eat a protein substitute formula daily, or as they are directed by their personal physician. Typically, the daily dose of protein is divided in between meals as oppose to consuming it all at once. The formula for older children and adults isn’t the same but it does work on the same basic principle. …show more content…
Studies have shown that sapropterin dihydrochloride is well tolerated, lowers blood Phe, and improves PHE tolerance in approximately 25-50% of individuals with PKU. (PKU a problem solved) Sapropterin, Kuvan, is now FDA approved. The FDA has ordered continuing studies for this drug because there are yet to be long term studies on the drugs side effects or safety. (mayo) Alternative clinical studies are underway including Liver cell transplants for Phenylktonuria along with treatment with rAvPAL-PEG. Childrens hospital Pittsburgh Neutral Amino Acid Therapy in powder or tablet form is a supplement may block some absorption of phenylalanine, this is a new and upcoming treatment that effects have not been well-studied. (MAYO) Managing Phenylketonuria is a difficult, complex, life-long task. The National PKU Alliance is a patient advocacy non-profit organization that has dedicated its existence and resources to the hope of one day developing a cure and until then improving the lives and treatment options of individuals with
Abbreviations: PHE, Phenylalanine; PAH, Phenylalanine Hydrolase; PKU, Phenylketonuria
Keywords: Phenylanine
Phenylketonuria
The genetic disorder Phenylketonuria effects approximately 1 in 10,000 to 15,000 newborns annually in the United States …show more content…
Treatment requires a strict diet plan and individuals are encouraged to avoid foods high in protein or that contain PHE. Meat, fish, poultry eggs, cheese, milk, dried beans, and peas are among the foods that are discouraged from consumption. (The National PKU Alliance, 2014) Babies and toddlers diagnosed with Phenylketonuria are placed on phenylalanine-free formula due to normal formula and breast milk containing phenylalanine. Depending on the severity of the mutation and the patients amount of PAH production some individuals may have moderately liberal diets without severe increase in Phenylketonuria levels while others must adhere to stricter diet plans. Adults with Phenylketonuria are encouraged to continue drink or eat a protein substitute formula daily, or as they are directed by their personal physician. Typically, the daily dose of protein is divided in between meals as oppose to consuming it all at once. The formula for older children and adults isn’t the same but it does work on the same basic principle. …show more content…
Studies have shown that sapropterin dihydrochloride is well tolerated, lowers blood Phe, and improves PHE tolerance in approximately 25-50% of individuals with PKU. (PKU a problem solved) Sapropterin, Kuvan, is now FDA approved. The FDA has ordered continuing studies for this drug because there are yet to be long term studies on the drugs side effects or safety. (mayo) Alternative clinical studies are underway including Liver cell transplants for Phenylktonuria along with treatment with rAvPAL-PEG. Childrens hospital Pittsburgh Neutral Amino Acid Therapy in powder or tablet form is a supplement may block some absorption of phenylalanine, this is a new and upcoming treatment that effects have not been well-studied. (MAYO) Managing Phenylketonuria is a difficult, complex, life-long task. The National PKU Alliance is a patient advocacy non-profit organization that has dedicated its existence and resources to the hope of one day developing a cure and until then improving the lives and treatment options of individuals with