What is Phenylketonuria? What are The Affordable Phenylketonuria Treatment Available Today?
Phenylketonuria is a hereditary disorder that affects the hydroxylase that processes the amino acid phenylalanine. During early childhood, phenylketonuria is usually diagnosed in a baby. It affects the development of a child throughout their lives. Symptoms of this disease include stunted growth and hyperactivity. Additionally, it can cause seizures and tremors.
People with this genetic disorder cannot break down the amino acid phenylalanine, a key building block of protein. Because of this, high levels of Phe can damage the brain and cause developmental disabilities. The most severe form of Phenylketonuria Treatment, classic PKU, is caused by a change in a gene responsible for breaking down phenylalanine. In these forms, the enzyme responsible for breaking down the amino acid phenylalanine is missing or severely reduced. This can result in dangerous levels of phenylalanine in the bloodstream.
People with classic PKU should avoid eating foods high in protein because they can lead to serious neurological problems, including intellectual disability and mental impairment. Although it is rare, newborns are routinely screened for PKU after birth, to make sure the baby isn't suffering from the disease. Taking care of the symptoms of the condition early is crucial for preventing major health and intellectual problems later on. If diagnosed early, PKU can be cured, and the baby can grow normally.
The prevalence of PKU varies widely in different countries, ranging from 0-0.4 per 1000 newborns. The pooled prevalence ratio indicates that the disease is more common in Eastern Mediterranean countries. The total expenditure for diet-associated therapy varies according to age group and is likely to increase with age. Gene therapy is a possible Phenylketonuria Treatment option.
A new drug called SYNB1618 is being developed by Synlogic Inc. It is an oral formulation of synthetic sepiapterin, a precursor of intracellular tetrahydrobiopterin, which is a critical enzymatic cofactor. This therapy has undergone a Phase II clinical trial and is now being evaluated in Phase III. The FDA and EC have also granted Orphan Drug status to PTC923, a synthetic sepiapterin.
Genetic testing is the first step in determining whether a patient has PKU. It is possible to request a test through amniocentesis or chorionic villus sampling. Genetic testing is particularly important for parents who have Phenylketonuria Treatment. If the parents have the disorder, the likelihood of having another child with PKU is higher than if neither parent has the condition.
Hence, genetic testing for Phenylketonuria is important for both parents and their unborn children. In addition to these medications, researchers are exploring several additional treatments for PKU. For example, neutral amino acid supplementation has been shown to prevent the entry of phenylalanine into the brain. Additionally, gene therapy is widely available and researchers are exploring several other options for treating the disorder. These treatments have become popular and affordable.
The primary Phenylketonuria Treatment is a low phenylalanine diet. This diet is effective in maintaining blood phenylalanine levels within acceptable limits and in some cases, helps in cofactor therapy. Glycomacropeptides and amino acid formulations have many advantages and drawbacks, however, and they are expensive and time-consuming to purify.
In addition to dietary changes, a phenylketonuria treatment also targets the underlying cause of the disorder. For instance, a high-protein diet has led to elevated levels of phenylalanine in the blood. Without this enzyme, the amino acid accumulates in the body, causing seizures, developmental delays, and intellectual disabilities.
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