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Phenylketonuria
Introduction
Phenylketorunia is agenetic disorder caused by deficiency of an enzyme responsible for converting phenylalanine, an essential amino acid to another amino acid tyrosine.
- In classical phenylketonuria, the enzyme is completely or almost completely absent in human body.
- In absence of the enzyme, phenylalanine accumulates in the blood and tissues, causing the level of phenylalanine to rise.
- Normal values of phenylalanine in blood are about 1 mg/dl, which may rise above 30 mg/dl and sometimes up to 80 mg/dl.
- In other forms of phenylketonuria, the level may be comparatively less than the classical forms of phenylketonuria.
- High level of phenylketonuria and its breakdown products may cause significant problems associated with phenylketonuria.
- Classical form of phenylketonuria occurs one in every 10,000 to 20, 000 caucasian and the chances are equal in males and females.
- The affected person of phenylketonuria inherits each trait from both of the parents.
Symptoms:
The early symptoms in infants include rash in body, vomiting, muscle problems and blue eyes at the time of birth.
Untreated children may show the signs of developmental delays, small head, prominent cheek, mental retardation and sometimes seizures.
Diagnosis:
- The blood tests in infants are carried out for levels of phenylalanine.
- If phenylalanine level is found abnormal or alarming, confirmatory tests are carried out to confirm phenylketonuria.
Treatment:
- Phenylalanine is essential amino acids and is only obtained from the food we consume.
- Avoiding high protein foods, such as meat, milk, fish, eggs, cheese and chickens, can reduce phenylalanine.
- Depending upon the level of phenylalanine levels in blood, low phenylalanine or phenylalanine free diet is recommended.
- These diet restrictions has to be followed lifelong in order to develop physical and mental health to the maximum.
- You should carry out a routine check up for phenylalanine level in blood.
- A regular guidance from Nutritionist should be taken and all precautions should be taken to maintain the desired level of phenylalanine in blood.
- Sometimes weakness or other problems can cause the dissociation of proteins to amino acids. These factors may increase the phenylalanine levels in blood.
- Pregnant women with phenylketonuria should maintain the phenylalanine level in blood and during pregnancy they should carry out regular check ups for phenylalanine levels in blood.
Behavioral Changes:
The individuals with phenylketonuria are required to visit doctor and carry out blood test at regular intervals. Sometimes it is also difficult to adjust with the diet.
All these factors can cause some behavioral changes in individuals and should be carefully tackled by family members.
Untreated Phenylketonuria:
If phenylketonuria is not diagnosed and treated at the right time may cause several problems including
- Continuous mental retardation of children
- Microcephaly (small head)
- Widely spaced teeth
- Poor development of teeth enamel and
- Overall body decreased growth.
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