PKU symptoms are caused by a defective gene and can be first observed in infants. In this article we will discuss the details about this condition and how it can be treated…
Phenylketonuria (PKU) is a genetic disorder which is passed on from parents, who may also suffer from this disorder or are carriers without being aware of the fact, to the offspring. Phenylalanine hydroxylase is a type of enzyme which belongs to the family of amino acids that assist in the production of proteins in the body. In this condition, due to a faulty gene in the body, this amino acid is not processed and leads to the buildup of protein in the body.
Though rare in nature, phenylketonuria can result in a number of serious health disorders. Hence it is essential to treat the PKU symptoms in the beginning stages, which can help prevent the condition from becoming severe. The symptoms exhibited by this condition mainly depend on the levels of phenylalanine hydroxylase in blood. Given below are a few symptoms of this developmental disorder.
In Infants and Children
- Babies with high levels of phenylalanine are often underweight when they are born and the growth is slower as compared to normal babies.
- The size of the head in infants with this defect is comparatively smaller as compared to other normal babies. This condition is known as microcephaly in medical terms. Stunted growth is also one of the symptoms of PKU in infants and children.
- Babies also tend to be irritable and cry a lot at all times even without reason. They have poor feeding habits and may also appear lethargic.
- Since phenylalanine is responsible for the making of melanin, a pigment which gives the skin and hair its color, skin discoloration and lighter hair tone can be observed as one of the indications of phenulketonuria in infants. They become susceptible to skin disorders like eczema and psoriasis.
- A peculiar odor, like a musty smell emitted from the urine, breath etc. can be noticed in children who have an excess of phenylalanine in the body.
- Children have a delayed mental development and may suffer from behavioral and psychiatric problems. In case of a delay in treatment, these children may suffer from intellectual disability, which is irreversible.
In Adults
- Adults who are victims of PKU may exhibit symptoms like frequent mood swings, anxiety disorder, inability to focus properly, etc. Depression, impaired cognitive behavior and irritability are some other symptoms which are seen.
- Hyperactivity and unusual positioning or jerky movements of the limbs are also observed in adults. Some adults may also show symptoms similar to ADHD (Attention Deficit Hyperactivity Disorder). There is also a delay in the social and mental skills.
- Some individuals may also suffer from seizures, tremors and persistent skin rashes.
- Pregnant women who suffer from phenylketonuria are at a higher risk of having a miscarriage.
Diagnosis and Preventive Measures
The diagnosis of PKU involves undergoing urine and blood tests which help evaluate the levels of phenylalanine in the blood. A routine blood test right from the time the child is a year old is essential to keep a track of the levels of this amino acid in the blood. Once the diagnostic tests are carried out, the doctor may advice the patient to follow a strict diet plan throughout, which is low in phenylalanine.
A low protein diet can help reduce the intensity of PKU. Foods like eggs, soybeans, fish, nuts, chicken, beef, milk and other dairy products, peas, etc. which are rich sources of phenylalanine should be completely avoided. Amino acid supplements are also a strict no-no. In case of infants, a special formula which is free from phenylalanine is given.
Since phenylketonuria is a birth defect, the only way to prevent it is to undergo a blood test and fetal screening to detect the presence of a faulty gene. If you are a carrier of this mutated gene, then consult a doctor before conceiving in order to avoid passing this defective gene to the baby. Take care!
