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Phenylketonuria
 
Phenylketonuria (PKU) is an inherited genetic disorder which leads to the failure of metabolism of a protein called phenylalanine (Phe). The greater level of this protein present in the body can be detrimental to the brain and may also result in mental retardation of the affected person. The incidence of the gene accountable for Phenylketonuria metabolism is widely seen among the people belonging to Ireland, Belgium, Scotland and West Germany.
There is very little evidence of this disease in Asians, Finns, Blacks, Native Americans and Jews.

Possible Causes of Phenylketonuria
  • Hereditary inheritance, which is passed on to a baby from the parents. A baby has more chances of inheriting this genetic disorder when it happens to bear defective genes from both the parents

Symptoms and signs of Phenylketonuria
Practically, each infant is screened for PKU immediately after birth and if spotted, an early treatment is begun; hence the typical signs of PKU are not common.
  • Asymptomatic at the time of birth
  • Limited brain development (around the age of 4 months)
  • Abrupt decline in the IQ level (during the period of their first year)
  • Hyperactivity
  • Irritability
  • Meaningless and monotonous motions.
  • Abnormal gait or foot moving manner
  • The affected child may have lighter complexion than the siblings with blue eyes
  • There is a peculiar musty smell emanating from the discharges such as breath, sweat and urine of the PKU affected baby
  • Few of them can develop seizures during the period of 6 months to1 year

Complication due to Phenylketonuria
There are certain complications that the affected patient may develop in the absence of timely treatment for PKU.
  • Retarded mental growth (due to the failure of early treatment )
  • Can cause epilepsy
  • Retain severe behavioral abnormality
  • Congenital anomaly
  • Mental impairment in babies (if born to untreated PKU mothers)
  • Unplanned abortions and skin lesions (in pregnant women with PKU)
  • Agoraphobia ( fear of open spaces)
  • Other types of psychological disturbances (if they discontinue special diet)

Diagnosis methods of Phenylketonuria
The diagnosis method includes the screening test, which is known as Guthrie test. This is conducted on the blood sample of a baby just after birth for detecting PKU. There is an elevated level of phenylalanine in the blood and this can be practically seen in a baby which has started protein diet. As a further step to substantiate the diagnosis, the baby’s urine is tested for the presence of phenyl pyruvic acid. Enzyme assay test is also conducted to trace the state of the carrier. If the child has crossed infancy, an MRI scan will be taken. Most of the children detected with PKU will show an uncharacteristic EEG pattern.

Treatment options for Phenylketonuria
The treatment of PKU mainly lies consists of a low protein diet. In the case of infants, special formulas having low protein content along with some essential vitamins and minerals are provided. If this is the case of an adult or a big child, they can consume low protein breads, cereals and pastas with a large portion of fruits and vegetables. It is seen that the babies that grow on a special diet shortly after birth, have a greater chance of growing up normally and has very less chance of gaining the symptoms of PKU later. As a matter of fact, it is prerequisite for the child to continue a restricted diet for the rest of the life to evade future complications.

Prevention methods for Phenylketonuria
  • Screening test (mandatory for every newborn baby to undertake a for PKU detection)
  • Follow the specific dietary methods advised by the doctor
  • Guidelines ought to be pursued in order to evade further complications
  • Precautionary management (If the pregnant woman is screened with PKU genes, then it is necessary to save the child from acquiring the disease)






 

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