What Are The Common Signs Of Phenylketonuria (PKU)?

Does the term phenylketonuria (PKU) ring a bell to you? Perhaps not, unless you make up a very small portion of the population affected by this condition at birth.

This health condition is a rare genetic disorder that's marked by the body's inability to break down an amino acid known as phenylalanine.

Phenylalanine is an amino acid that's used to create proteins, neurotransmitters, and hormones like melanin in the body. Humans typically ingest this compound through the consumption of protein-rich foods such as meats, dairy products, and grains.

Healthy people are able to break down phenylalanine and convert it into tyrosine, another amino acid vital for brain health. However, those with PKU find themselves unable to do so due to a lack of the enzyme phenylalanine hydroxylase.

This can cause an excessive build-up of this amino acid in the body, which can lead to dangerous consequences.

If you want to learn more about the signs and symptoms of this disease, read on. It's important to note that only a doctor can diagnose you with this condition, so always follow up on any suspicions with a trusted medical professional.

Let's learn more about this condition and the signs you or a loved one has it.

4 Types of Phenylketonuria

Phenylketonuria can be classified into four different types. These types depend on the severity of the enzyme deficiency:

1. Classic PKU: This is the most common and most severe enzyme deficiency. Patients with this form are unable to process even small amounts of phenylalanine.
2. Variant PKU: Also known as moderate PKU, this type is marked by a milder enzyme deficiency of about 900-1,200 micromol/L.
3. Mild PKU: In patients with mild PKU, blood phenylalanine concentrations range from 600-900 micromol/L.
4. Hyperphenylalaninemia: Patients with this type of PKU have a concentration of 360 micromol/L or above.

No matter the severity, children and adults with this condition should still strictly follow a strict diet to minimise the risk of future complications, such as intellectual disabilities.

Why Does Phenylalanine Need to be Broken Down?

Phenylalanine is one of the eight major amino acids that the body obtains through its diet. Your body is unable to produce it naturally on its own. This amino acid is essential for protein synthesis as well as the production of several important hormones, such as serotonin. It's also essential for producing tyrosine.

The benefits of amino acids are only possible when the body properly breaks them down. People with PKU lack the enzymatic activity needed for this process, resulting in the harmful buildup of this enzyme. This could lead to serious mental disabilities if left untreated.

Furthermore, pregnant women who don't follow a proper treatment plan can give birth to children with intellectual disabilities and physiological disabilities, like a small head or a weakened heart. This is why it's important to get your blood tested by a clinic regularly to ensure that you're not unknowingly putting your future children at risk.

10 Common Signs of Phenylketonuria (PKU)

You shouldn't visit a doctor only when you're facing the most severe form of PKU. Prolonging treatment can have long-term ramifications for your nervous system and brain health, so it's best to get treated as soon as you suspect you have symptoms.

If you're aware of your symptoms already, get your infant diagnosed as well. This condition is genetic, so there's a higher likelihood that you may have passed down the genes for this amino acid deficiency. On top of that, in the US, 1 in every 10,000 newborns is diagnosed with this disease every year.

Repeated testing may be necessary since this condition isn't always symptomatic during the earlier months of your infant's birth.

Without further ado, here are the most common signs of phenylketonuria.

• Eczema or skin rashes
• Unusually small head
• Slow growth
• Seizures and tremors
• Behavioural and social problems
• Fairer skin than siblings
• Epilepsy
• Sickness prone
• Delayed development
• Musty breath

If you or your infant have any of these symptoms, seek medical help as soon as possible. Early diagnosis and treatment are key to avoiding irreversible brain damage and other complications.

4 Ways to Treat Phenylketonuria

Here's the hard-hitting truth: a metabolic condition like PKU has no permanent cure.

However, it's possible to lower the levels of phenylalanine in your blood through clinical and home remedies.

Depending on your age and the intensity of your condition, a custom-tailored treatment plan may also be prescribed by your doctor.

Here are four main ways to treat PKU:

1. Avoid Protein: Refraining from meat and protein-rich foods, as well as potatoes and cereal, is the primary solution for lowering blood phenylalanine levels.
2. Supplement With The Right Tablets: Amino acid supplements can help you fill in the gaps by providing the body with essential amino acids.
3. Avoid Aspartame: This amino acid gets converted to phenylalanine in the body, so avoiding this is necessary as well. Foods that contain aspartame include artificial sweeteners, diet soft drinks, and chewing gum.
4. Take Sapropterin Medication: For diagnosed individuals under 22 years old, this medication helps break down excess phenylalanine in the body and helps boost brain health.

As mentioned earlier, PKU is a lifelong condition. Adults with PKU must stick with a low-protein diet, while infants must start their treatment once it's been revealed that they have the condition.

As with other health issues, you'll need to get in touch with a medical professional to know the best treatment for your case. 

Everyone's situation is different, and while articles online can serve as an informative tool to give you a clear picture of your health, it's not everything.

Best of luck in your health journey!