Parents have ever heard the term phenylketonuria or PKU? Phenylketonuria is a rare genetic disorder that is characterized by a distinctive musty odor in babies.
This condition can be quite dangerous because its complications can cause serious health problems and affect the developmental stages of your little one. PKU can cause nerve problems and brain damage.
For this reason, Parents need to know the characteristics, how to prevent it, and what treatment needs to be done. The following is a complete review of phenylketonuria.
Definition of Phenylketonuria
Our bodies work to break down the proteins in foods like meat and fish into amino acids, which are the “building blocks” of those proteins.
These amino acids are then used to make proteins in our own bodies. Any amino acids that are not needed are broken down further and excreted from the body.
One of these amino acids is phenylalanine. Phenylalanine is present in the body as part of normal biochemical pathways.
Quoting fromCleveland Clinic, Phenylketonuria (PKU) is a rare, inherited genetic condition that causes increased levels of phenylalanine in your body.
Phenylketonuria is a potentially serious inherited disorder. People with PKU cannot break down the amino acid phenylalanine, and without the enzyme needed to break down phenylalanine, a dangerous buildup can occur when someone with PKU eats foods containing protein or eats aspartame, an artificial sweetener. This can eventually lead to serious health problems such as brain damage.
There is currently no cure for PKU. However, recognizing the symptoms of PKU and starting treatment early can help prevent the risk of limitations in thinking, understanding, and communicating or intellectual disability , as well as other health problems.
Causes of Phenylketonuria
Phenylketonuria is a dangerous disorder.
Phenylketonuria is a genetic condition that is passed down to children from their parents in an autosomal recessive pattern. Babies receive one copy of the mutated gene that causes PKU from each parent during conception.
In most cases, the parents are carriers of the gene (carrier), but have no symptoms of the condition.
PKU is caused by mutations in both copies of the PAH gene. The PAH gene is the gene that gives the body instructions for making an enzyme (phenylalanine hydroxylase) that is responsible for converting amino acids into components (proteins) that the body can use.
When the body cannot process the amino acid phenylalanine from food, the amino acid builds up in the blood and tissues. The body then becomes sensitive to phenylalanine.
Clearly, babies with this disorder need treatment, especially in terms of dietary rules. Throughout their lives, people with phenylketonuria should consume foods that are low in protein, aspartame, and artificial sweeteners to avoid serious health problems.
Symptoms of Phenylketonuria Disease
Unfortunately, it is not easy to know if your child has phenylketonuria. This is because there are no typical early symptoms. Some symptoms are often not considered a problem.
However, one symptom that often appears and is quite typical is a musty odor that can be smelled on the breath, urine, even skin, or hair of the little one. To make sure whether the little one is really experiencing it, there are a number of lab tests that can be done.
In addition, there are also various signs and symptoms that you should be aware of, such as:
- A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.
- Neurological problems, including seizures.
- Skin rash (eczema).
- White skin and blue eyes, because phenylalanine cannot be converted into melanin, the pigment responsible for hair and skin color.
- Abnormally small head (microcephaly).
- Hyperactive.
- Intellectual disability.
- Development is delayed.
- Behavioral, emotional, and social problems.
- Mental disorders.
Diagnosis
Phenylketonuria can be diagnosed soon after birth as part of a blood test . The doctor will take a blood sample from the baby’s heel by pricking it with a small needle.
If the baby’s phenylalanine levels in the blood sample are high, the doctor will usually do additional tests to confirm the diagnosis and type of PKU. Usually with additional blood tests or urine tests .
Because PKU is a genetic condition, genetic testing can show mutations in the genes that cause symptoms.
In addition, enzyme testing can be done when planning a pregnancy. An enzyme test is a blood test that can determine whether a person carries the defective gene that causes PKU. This test can also be done during pregnancy toscreeningPKU in babies in the womb.
Severity Level
There are different types of phenylketonuria (PKU) based on the severity of the diagnosis. The types of PKU include the following:
- Classic PKU (most severe).
- Moderate or mild PKU.
- Mild (mildest) hyperphenylalaninemia.
Symptoms usually appear worse in severe and untreated cases.
Complications
This condition can occur in infants, children, and pregnant mothers. Untreated PKU can cause several complications such as the following:
- Irreversible brain damage and marked intellectual disability, beginning in the first few months of life.
- Neurological problems such as seizures and tremors .
- Behavioral, emotional and social problems in older children and adults.
- As well as, child health and development issues.
Phenylketonuria in Pregnant Women
Women who have phenylketonuria during pregnancy are at risk for another form of the condition called maternal PKU. If a pregnant woman does not follow a special PKU diet before and during pregnancy, her blood levels of phenylalanine can become high and harm the developing fetus.
In addition, pregnant women are also at risk of developing pregnancy complications, one of which is miscarriage . Some pregnant women with mild to moderate PKU are at risk of birth defects if they do not follow a special diet.
Babies born to mothers with high phenylalanine levels may not inherit PKU, but they may develop serious health problems if the mother has high phenylalanine levels in her blood during pregnancy. As a result, the baby is at risk for:
- Low birth weight (LBW)
- Unusually small head (macrocephaly)
- Problems with the liver
- Developmental delay
- Intellectual disability
- Behavioral problems
Therefore, it is very important for women with a history of PKU to consult their doctor and maintain a healthy diet before planning to become pregnant and during pregnancy. A special diet can reduce the risk of high blood phenylalanine levels that can harm their unborn baby.
Prevention
Given that phenylketonuria is a genetic disorder, anyone is at risk of experiencing it, including pregnant women. Therefore, preventive measures are needed that can be carried out by someone who has PKU, but is planning a pregnancy program.
Some things that can be done include:
1. Low Phenylalanine Diet
One of the risks of pregnant women experiencing PKU is the occurrence of birth defects in the fetus. Therefore, it is important for mothers with this condition to undergo a low-phenylalanine diet before becoming pregnant.
2. Genetic Counseling
Since phenylketonuria is a genetic disorder that is inherited genetically, genetic counseling is very important for pregnant women who suffer from this condition. Doctors will usually show the possibility of this condition through the family tree.
Foods to Avoid
Some foods that should be avoided if your little one experiences this condition include:
- Milk
- Egg
- Cheese
- Nuts
- Soya bean
- Peas
- Chicken
- Beef
- Pig
- Fish
- Potato
- Soda
- Food and drinks with artificial sweeteners
Considering that phenylketonuria is a disease that cannot be cured, it is very important for sufferers to undergo treatment that aims to control the levels of phenylketonuria in the body so that it does not cause more serious and potentially dangerous symptoms and complications.
Republished with permission from theAsianParent Indonesia
