Phenylketonuria
Symptoms of
phenylketonuria will usually appear gradually. New symptoms appear if the
buildup of phenylalanine occurs continuously and interferes with brain
function. Examples of symptoms are seizures, tremors or shaking, and slow
growth.
Based on its
severity, phenylketonuria is divided into two types, namely heavy (classical)
and mild phenylketonuria. In severe phenylketonuria, the enzymes needed to
change phenylalanine are lost or reduced very drastically. This condition
causes phenylalanine levels in the body to be very serious, and severe brain
damage occurs.
In mild
phenylketonuria, enzymes can still function even if they are not as good as expected.
This condition causes the buildup of phenylalanine to be not too high.
Symptoms of Phenylketonuria
Symptoms of
phenylketonuria appear slowly. Generally, these symptoms only occur when the
child is 3-6 months old. Some of the signs that will appear are:
- Lousy breath, urine, skin, or hair
- Rashes on the skin or eczema
- Stiff
- Tremors or
shaking
- Skin, eyes, and hair color turn
bright
If not treated,
phenylketonuria can cause permanent brain damage. This condition can be
characterized by several symptoms, such as:
- Stunted growth and development of
children
- Intellectual impairment or mental
retardation
- The head size is smaller than the
size of a normal baby's head(microcephaly).
- Recurrent seizures
When to go to the doctor
Take your child to the doctor when
experiencing the complaints and symptoms mentioned above. Examination and
treatment from the beginning are necessary to prevent complications.
If the child is
born to parents with a history of phenylketonuria, then the child needs regular
check-ups with the doctor. The sooner it is detected and treated, the risk of
phenylalanine buildup and severe brain damage can be lowered.
If you and your
child have been diagnosed with phenylketonuria, exercise regular control and
follow the recommendations and special dietary arrangements given by your
doctor to prevent the buildup of phenylalanine in the body.
Causes of Phenylketonuria
Phenylketonuria
is a disease caused by a genetic mutation, which will lead to the loss and
reduction of the decomposing phenylalanine enzyme. These genetic mutations can
also cause the phenylalanine-breaking enzyme to not work correctly. These
things will cause a buildup of phenylalanine.
Until now, the
cause of the genetic mutation is not known with certainty. Phenylketonuria is
inherited through autosomal chromosomes in a recessive manner. A person will
only suffer from this disease if they get the phenylketonuria gene from both
parents.
If only one
parent had the phenylketonuria gene, the offspring would not have the disease.
However, the child of the parent can be a carrier or carrier of the phenylketonuria
gene.
Diagnosis Fenilketonuria
To diagnose
phenylketonuria, the doctor will ask questions about the complaints and
symptoms experienced by the patient and medical history in the family. Next,
the doctor will perform a thorough physical examination. The doctor will ask
the patient to perform additional tests to confirm phenylketonuria, such as
blood tests and DNA tests.
If your baby is
at risk for phenylketonuria, the examination may begin when the baby is one
week old. This examination is done by taking a blood sample from the baby's
heel or elbow to be examined in the laboratory.
If proven to have
phenylketonuria, the baby should undergo regular examinations to measure phenylalanine
levels in his body. The frequency of blood tests performed to monitor
phenylalanine levels is:
- Once a week, in infants aged 1-6
months
- Once every two weeks, in infants aged
6 months to 4 years
- Once a month, in children over 4
years of age to adulthood
Treatment of Phenylketonuria
Phenylketonuria cannot be cured. Treatment of phenylketonuria aims to control the levels of phenylalanine in the body to prevent symptoms or complications.
Treatment of
phenylketonuria begins with applying a diet low in phenylalanine. In infants
who consume formula, parents should consult a pediatrician about the
appropriate type of formula.
After children
can eat foods other than breast milk, parents are asked to keep away foods that
contain a lot of protein, such as eggs, milk and processed products, fish, and
all types of meat. To keep the intake of amino acids awake, children can be
given amino acid supplements according to the doctor's instructions.
This
low-phenylalanine diet must still be lived until the child becomes a teenager
and even an adult. In addition to avoiding foods high in phenylalanine,
sufferers should avoid foods, drinks, and syrup-shaped drugs containing
artificial sweeteners.
To monitor phenylalanine
levels in the body, patients will be asked to undergo regular blood tests. This
monitoring can also prevent patients from complications of phenylketonuria.
Complications of Phenylketonuria
Phenylketonuria
that does not get proper treatment will cause several complications, namely:
- Permanent brain damage
- Children's growth and development is
stunted
- Behavioral and emotional disorders
- Seizures and tremors
If
phenylketonuria in mothers does not get treatment, complications can arise in miscarriage or babies born with congenital abnormalities.
