HSN107 Physiology Of Human Growth And Development


Write a report about the genetic disorder Phenylketonuria for diverse audiences.


A Brief Overview of The Disease

Phenylketonuria is caused by genetic mutation. This disorder can manifest in three levels: mild, moderate, and severe.

People with the disorder are likely to have defective genes that cause a lack or deficiency in the enzyme responsible for the active processing of the phenylalanine, an amino acid.

The enzyme may not function properly and can lead to dangerous protein buildup (1).

This protein buildup can be further intensified if these people consume protein rich foods, such as milk, nuts and cheese.

The protein buildup eventually causes damage to the nerve cells of the brain.

They must also maintain a restricted intake of phenylalanine (2) when they are diagnosed.

Phenylketonuria (Pku), a rare genetic condition, affects one in 10 000 Australian babies.

The Australian population is unaware of this disorder.

Parents only learn the name of this disorder after their baby is born.

But they don’t seem able to grasp the disorder (3).

Genetic Mutation

The most common cause of the disorder is mutation in the PAH genes.

The PAH gene provides instructions in many forms for the making of an enzyme called the Phenylalanine Hydroxylase.

This enzyme helps in the conversions of amino acids such as phenylalanine into different compounds.

If a gene mutation affects the gene, it reduces the enzyme’s activity and the protein phenylalanine can no longer be taken from the diet.

Over time, toxic levels of the amino acid are seen in the blood and other tissues.

Phenylalanine is particularly toxic to brain nerve cells, so excessive levels can lead to brain damage.

The classic form of PKU, the most severe, occurs when the enzyme Phenylalanine Hydralase activity is severely impaired or absent.

People with the disorder who aren’t treated correctly are likely to develop high levels of phenylalanine, which can cause serious brain damage and other health problems.

To pass the disorder on to a child, both the father and mother must have it.

This type of inheritance is called autosomal recessive.

The disorder can be caused by a parent who is a carrier of the defective genetic gene, but the child may not have symptoms.

A child who has only one defective gene in their family will not be affected by it.

If the parent with the defective gene passes them on to their child, then the child will inherit two copies of the gene. This would lead to the development of the disorder.

Clinical Symptoms

Babies born with the disorder are not affected by symptoms.

Babies with the disorder will develop symptoms within a few weeks if they are not treated in time.

A musty odor is one of the most noticeable signs. It is caused by the high body level of phenylalanine.

Neurological problems can also occur, which could eventually lead to seizures.

Additionally, it can cause skin rashes and eczema.

Because the protein cannot transmit melanin (the pigment responsible for hair color and skin tone), fair skin is also possible.

A condition called microcephaly, which is an abnormally small head, is also common.

In the cases of this disorder, hyperactivity is also a result.

Additional symptoms include intellectual disability, delayed developmental and other signs and symptom.

You may also experience various kinds of behavioral, emotional and social problems.

These individuals may also be suffering from psychiatric disorders.

PKU tests are usually performed within two days of birth.

The baby must be at least 24 hours of age and the baby has been allowed to eat some protein in order to ensure accurate results.

The nurse healthcare professional or lab technician will take a few drops of blood from the baby’s foot or from his arm.

To determine whether the patient has any symptoms, the laboratory will also examine the blood sample.

These tests help to detect excess protein levels in blood (7).

To confirm the initial results, additional tests may be ordered.

These tests can be used to confirm the existence of the PAH mutation, which is responsible for the development of PKU.

These tests are generally done within six weeks following birth.

Nutritional Management

The best way to treat the disorder is to eat a restricted diet that does not contain phenylalanine.

Breast milk is an option for children who have the disorder.

Lofenalac, a particular type of formula can be given to these children.

Once the baby is old enough for solid food, caregivers should discourage them from eating high-protein foods.

These foods include cheese, milk and eggs as well as beans, meat, chicken, fish, and pork.

A specific PKU formula is required for infants suffering from the disorder to ensure they receive enough protein.

This formula includes all of the protein required by the body, plus phenylalanine.

The specialty health shops sell many low-protein, PKU friendly foods (8).

To maintain their condition, those with this disorder must follow dietary restrictions and consume PKU formula throughout their lives.

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