Phenylalanine sensitivity occurs due to a rather uncommon genetic condition called phenylketonuria (PKU), which is characterized by a deficiency of a liver enzyme that is necessary to decompose phenylalanine – an amino acid present in all proteins and certain artificial sweeteners. The body makes use of an enzyme called phenylalanine hydroxylase to change phenylalanine into tyrosine.
PKU develops because of a fault in the gene which produces phenylalanine hydroxylase. When this enzyme is absent, the body can not break down phenylalanine. Consequently, an accumulation of phenylalanine occurs in the body. Timely diagnosis and an optimal management plan helps allay the symptoms of PKU and also averts brain impairment.
The condition is detected during newborn screening, and a special diet helps prevent the occurrence of symptoms.
Symptoms Of Phenylalanine Sensitivity
Since, your body can not break down phenylalanine, its consumption results in high levels of the amino acid in the blood. Consequently, this manifests as:
- A musty smell from the skin, breath and urine.
- Vomiting is another frequently seen manifestation.
- In case the child is not placed on a special diet, a host of developmental effects may occur too – delayed or slow physical development, formation of a very small head and lighter colored skin, hair and eyes compared to other members of the family.
- Neglected, it could also result in mental retardation in children.
- Delayed development of mental abilities and social skills is seen too. Hyperactivity or self-mutilation has been noticed as well.
- Phenylketonuria causes severe neurological effects, such as tremors and seizures.
What Causes Phenylalanine Sensitivity?
Phenylalanine sensitivity develops because of phenylketonuria – an absence in a liver enzyme necessary to breakdown phenylalanine. Our body utilizes phenylalanine hydroxylase to transform phenylalanine into tyrosine which is very vital for the synthesis of neurotransmitters.
Phenylketonuria develops due to a fault in the gene which synthesizes phenylalanine hydroxylase. When phenylalanine hydroxylase is absent, the body fails to break down phenylalanine. Consequently, an unsafe build up of phenylalanine occurs if you consume high-protein foods, such as meat and eggs.
Both parents need to pass on the defective version of the gene for the offspring to inherit the condition. In case only one parent passes on the faulty gene, the child will not have any symptoms, however, he will be a carrier of the gene.
Treatment For Phenylalanine Sensitivity
It is essential that you consume a special diet which curtails your consumption of foods which contain phenylalanine. Infants having PKU may be fed breast milk. Once the baby is old enough to eat solids, you must avoid all foods high in protein. These are:
To ensure that your body gets sufficient amounts of protein, children must consume PKU formula, which provides you with all the amino acids that are required, with the exception of phenylalanine.
The meal plans differ from one individual to another. Regular follow ups with the doctor and nutritionist are very important to maintain the correct balance of nutrients whilst curtailing the intake of phenylalanine. The phenylalanine levels need to be monitored by a keeping record of the quantity of phenylalanine in the foods eaten.