The website is easy to navigate.
The website is straightforward and simple to use. anched chain amino acids and they discovered that the same enzyme was responsible for converting phenylalanine to tyrosine in humans and it’s this discovery that has led to a revolutionary new treatment for PKU called Kuvan Kuvan is a drug that helps individuals with PKU to break down phenylalanine and convert it to tyrosine the drug is made from a protein derived from the same enzyme found in plants and it’s the only drug approved by the FDA to treat PKU so while diet and formulas are still the mainstay of PKU treatment Kuvan is a major breakthrough that has helped individuals with PKU to live a more normal life
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For those of you who are fans of diet soda or fans of reading ingredients labels like me, you may have noticed a warning that says “Contains Phenylalanine” on every can, bottle, or jug of diet soda you’ve ever had. Maybe you spent two seconds wondering about the dangers of this mysterious five-syllable menace before shrugging and getting on with your refreshing beverage.
And for 99.99% of you, that’s fine. But if you happen to be one of the one in 10 to 15,000 people living with one rare genetic disease, that information was so important it’s worth baffling the rest of us over.
Phenylalanine is an amino acid that is a basic building block compound the body strings together to make proteins for a variety of uses. Phenylalanine is also a precursor in creating helpful substances like adrenaline and dopamine which play a variety of information-carrying roles in our body. In short, phenylalanine is an essential ingredient in our body’s kitchen.
Though as vital as phenylalanine is to the body, it can’t be produced by the body. Instead, we get our phenylalanine fix from external sources, mainly foods such as meat, poultry, fish, cottage cheese, lentils, peanuts, and sesame seeds. That makes it one of the so-called essential amino acids, meaning essential to ingest in our diets. The amino acid is also found in aspartame, an artificial sweetener used in many of the low-calorie, super-sweet foods and beverages on the market today. That includes many diet soda brands, sugar-free chewing gum, and so on.
So if it’s such a necessary and common component of our diets, it seems strange why we would need to be warned of its presence. Well, back to that 0.01% of folks we discussed earlier – hi, by the way! Certain individuals simply can’t digest phenylalanine or process it into all those helpful substances we discussed earlier. These people suffer from a genetic disorder known as Phenylketonuria, or PKU. There are a few other similar conditions as well.
People with PKU don’t correctly produce an enzyme called Phenylalanine Hydroxylase, or PAH. That enzyme normally converts phenylalanine to another amino acid, tyrosine, for further use. Without functional PAH, high concentrations of phenylalanine can build up in the body and, phenylalanine while necessary, is actually neurotoxic in high concentrations. Ask any toxicologist and they’ll tell you: the dose makes the poison – it’s the very definition of too much of a good thing.
With too much phenylalanine swimming around, PKU can result in numerous negative health effects, including intellectual disability, seizures, tremors, and ataxia if left untreated. And unfortunately, treatment isn’t as easy as just passing on the lentils. Individuals with PKU normally have to adhere to a low phenylalanine diet – this is as opposite to a high-protein, fat diet as you can possibly get. It means cutting out or reducing common foods like meat, fish, eggs, cheese, potatoes, corn, peas, and beans, and diet soda.
Further, because completely eliminating protein from the diet would cause its own set of problems for the body, individuals with PKU often have to take poor-tasting and smelling formulas that contain other essential nutrients several times a day. And if you’ve had this experience, you may be screaming at the screen – yeah, it’s really hard!
With so many restrictions, it’s not uncommon for individuals with PKU to struggle with maintaining such a rigid diet, which is