Loss of ability to break down an amino acid called phenylalanine is called PKU. It is a rare condition which results when both parents pass down this disease through their genes. The baby acquires phenylketonuria or PKU through autosomal recessive trait. The babies with PKU are deficient in the enzyme, phenylalanine hydroxylase, which is vital for breaking down phenylalanine. If not broken down, this enzyme along with two other related substances are responsible for brain damage.
The symptoms of PKU are quite noticeable. A baby with PKU will have
• Lighter hair, skin and eyes
• A small head
• Frantic activity
• Mental retardation
• Sudden movements of arms and legs
• Rashes on the skin
• Mousy odour on skin, breath and urine
A simple blood test is enough to find out if a baby is suffering from PKU. The face-saving factor of this disease is that it is treatable. The diet can be structured to guard against PKU. The diet must be strictly followed while the child is growing and also through his entire lifetime. Fish oil plays a vital role in PKU. It replaces the missing long-chain fatty acids and helps in coordinating the motor movements of the child. Fish oil supplements should be taken regularly to counteract the effects of PKU.
If precautions are not taken immediately and treatments are not started, mental retardation will occur quite soon. It is important for women to test for PKU during pregnancy and take necessary medication and dietary supplements to keep the disease under control.