Phenylketonuria (PKU) is a rare genetic disorder that affects how the body processes an amino acid called phenylalanine.
PKU is a rare disorder, affecting only about 1 in 10,000 to 15,000 newborns in the United States. However, all newborns must be screened for PKU shortly after birth, as early diagnosis and treatment can prevent serious complications. PKU screening is a routine part of newborn screening programs in all 50 states.
PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH), which breaks down phenylalanine into other amino acids that the body can use. Without enough PAH, phenylalanine builds up in the blood and can cause serious health problems.
PKU is an autosomal recessive disorder, meaning a child must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents are carriers of the PKU gene, there is a 25% chance that their child will inherit two copies of the gene and develop PKU.
Symptoms of PKU usually appear within the first few months of life as phenylalanine levels in the blood rise. Infants with PKU may have a musty
• Developmental delays.
• Intellectual disability.
• Behavioral problems.
• Seizures.
• Skin rashes.
• Light skin and hair.
• Small head size (microcephaly).
• Tremors or jerky movements.
If left untreated, PKU can cause severe intellectual disability and other neurological problems. However, early diagnosis and treatment can prevent many of these complications.
The primary treatment for PKU is a strict low-phenylalanine diet, which means avoiding foods high in protein, such as meat, fish, eggs, and dairy products, as well as foods that contain the artificial sweetener aspartame (which is made from phenylalanine). Instead, people with PKU must eat a special formula that provides all the necessary nutrients without phenylalanine. This formula is usually given as a drink or mixed into food.
In addition to the low-phenylalanine diet, patients with PKU may also need to take specific vitamins and mineral supplements, such as calcium, iron, and vitamin B12. They may also need to regularly monitor their blood phenylalanine levels to ensure they stay within a safe range.
While the low-phenylalanine diet can be challenging to follow, it is essential for preventing long-term complications of PKU. With proper treatment, many patients with PKU can lead normal, healthy lives.
Sometimes, a medication called sapropterin (Kuvan) may be used to treat PKU. Sapropterin is a synthetic form of the enzyme PAH, which can help to reduce blood phenylalanine levels in some people with PKU. However, only certain patients with PKU are candidates for sapropterin treatment, which may only be effective for some.
In rare cases, a liver transplant may be considered as a treatment for PKU. The liver is the primary site of phenylalanine metabolism, so a liver transplant can potentially provide the missing PAH enzyme. However, liver transplants are risky and not commonly used to treat PKU.
Phenylketonuria (PKU) is a rare genetic disorder that affects how the body processes an amino acid called phenylalanine. PKU is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH), which breaks down phenylalanine into other amino acids that the body can use. Without enough PAH, phenylalanine builds up in the blood and can cause serious health problems. The primary treatment for PKU is a strict low-phenylalanine diet, which means avoiding foods high in protein, such as meat, fish, eggs, and dairy products, as well as foods that contain the artificial sweetener aspartame (which is made from phenylalanine). In addition to the low-phenylalanine diet, people with PKU may also need to take specific vitamins and minerals, such as calcium, iron, and vitamin B12 supplements. They may also need to regularly monitor their blood phenylalanine levels to ensure they stay within a safe range. With proper treatment, many patients with PKU can lead normal, healthy lives.
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