What is Phenylketonuria

Phenylalanine is an amino acid usually found in proteins. Amino acids are building blocks of protein and Phenylalanine is one such amino acid. Every protein enrich diet carry all such amino acids but Phenylalanine is also present in artificial sweeteners. Phenylalanine is good for our metabolism until its level in blood doesn’t increases. If its quantity increases in blood then you are carrying a disease known as phenylketonuria. It is hereditary in nature and is usually inherited from mother or father. Phenylketonuria can cause serious health issues if not treated in time and is capable of causing mental disorders. Phenylketonuria is also known as PKU

Signs of phenylketonuria

phenylketonuria signs and symptoms vary with its type. Generally, phenylketonuria is addressed as mild or severe, where severe means acute or classic. Severe phenylketonuria signs are visible from childhood as the kid will show signs of intellectual disability and even few months old baby with classic phenylketonuria shows its signs.  Delay in mental growth, mental seizures, psychological problems and unpredictable behaviors are primary signs of severe phenylketonuria. If the phenylalanine level in blood is too high then the affected person will have moldy odor. Kids with severe phenylketonuria are prone to skin infections such as eczemas due to lighter skin. Mild phenylketonuria patients don’t have such severe problems but might show unpredictability in their behavior.

A new born baby might inherit phenylketonuria from his parent especially mother. The babies must treated for phenylketonuria as soon as possible because within a four to five years they will surely have full intellectual disability. Phenylketonuria babies have low weight and show low mental progress. Soon, these babies will have heart problems and several phenylketonuria babies have microcephaly (unusual small cranium size). A women with phenylketonuria have good chances of having a miscarriage and loss of fertility.

Facts about phenylketonuria

  1. Chances of getting phenylketonuria is around 1 in 1000.
  2. mutation in PAH gene cause phenylketonuria and this mutation rate defines the type of phenylketonuria in a human.
  3. Both the parents need to have at least one mutated PAH gene for the occurrence of phenylketonuria and that is why it is quite rare. Hence both father and mother needs to have a copy of mutated PAH gene to transfer phenylketonuria to their baby.

Treatment of phenylketonuria

The reason behind phenylketonuria is a protein named phenylalanine. So, its population in blood must be suppressed in order to avoid phenylketonuria. A non-phenylalanine diet is recommended all the time and any drug or medicine which carries phenylalanine. A phenylketonuria patient must have this diet from the very start otherwise it will lead to severe phenylketonuria.