What is PKU

PKU, Phenylketonurea, is a nightmare to mothers. Babies born with this rare genetic disorder are not able to split down an amino acid named phenylalanine in the body. The increased levels of phenylalanine cause severe damage to central nervous system. This is an autosomal recessive trait   already present in preceding generations. Babies show absence of an enzyme phenylalanine hydroxalase which is required to break phenylalanine.

Phenylalanine facilitates production of melanin which is responsible for skin and hair color. So, babies with this disease are darker in complexion and hair color is also prominent. Other symptoms include hyperactivity, slow mental growth, mental retardation and avoiding social environments. Babies often suffer from tremors and rashes and jerking movement of legs and arms is quite significant. Some babies contract seizures also. This disease can also be recognized by the odor of urine passed by new borns. Urine smells mousy due to increased levels of phenylalanine.

Treatment of PKU is possible and should be carried out immediately. Untreated PKU can result into mental retardation for life. Due to this, all US hospitals have made it mandatory to test the blood of new born babies before they are discharged. Phenylalanine levels can be controlled by taking diet less in phenylalanine. This can be achieved by following ‘diet for life’ regime. Infants should be given Lofenalac which is a special formula specially made for infants suffering from PKU. Lactating mothers should also take advice of dieticians to ensure suitable diet for them as well as the baby.

Attention-deficit hyperactivity disorder (ADHD) is the problem faced if this genetic disorder goes unattended. So, care should be taken to ensure that baby is tested for PKU, if this disorder is prevalent in the family. Phenylalanine is significantly present in milk and eggs. Supplements such as fish oil help improve motor coordination activities.

This genetic disorder can be prevented by checking sample of chorionic villus during pregnancy. Women with PKU should take authoritarian low-phenylalanine diet both before and throughout pregnancy. Increased phenylalanine level can hamper the development of fetus. The treatment of this disease is mostly diet-based. The oral intake of tetrahydrobioprotein (BH4) is also recommended to check this amino acid level in the blood.

Diet for life is the standard recommendation of most experts. Meat, chicken, eggs and phenylalanine rich foods are totally eliminated from diet regime. Starchy foods are not to be consumed at all. Though breast milk is must for babies, its amount needs to be checked and missing nutrients should be provided to baby through supplements.

Pregnant women who suffer from high levels of Phe (Phenylalanine) need constant monitoring of food diet. Extremely low levels of this amino acid may cause nausea, headache and hair loss in them.