Cures for PKU

PKU, or phenylketonuria, is a rare genetic disorder resulting in an inability to break down the amino acid phenylalanine. Left untreated or undetected in newborns and infants, PKU will begin to cause mental retardation and other neurological problems within a child's first year. Although the disorder is not strictly curable, early detection and a lifelong maintenance program will help provide a full and normal life.

Phenylalanine and PKU

• Phenylalanine is not produced by the body. All sources are dietary, and the amino acid is present in all protein-containing foods. It is needed by the body to make tyrosine, another amino used to make thyroid hormones and brain chemicals like norepinephrine and dopamine. Normally the body produces a separate enzyme, phenylalanine hydroxylase, to break down phenylalanine when its job is done. Sufferers of PKU do not produce this enzyme and in its absence phenylalanine builds up to toxic levels.

Symptoms and Screening

• PKU is what is known as an autosomal recessive condition, which means that both parents of a child must be "silent" carriers of the trait for it to manifest. Outside of mental retardation, symptoms of the disorder include tremors, seizures, skin rashes, hyperactivity and significantly diminished head size. Unless detected and treated, the effects of PKU will begin to set in within a few weeks after birth.

  Most states require a blood test for newborns to screen for the disorder. If you are not sure if this procedure was done on your child, contact your doctor for confirmation as soon as possible. If you have received a PKU diagnosis for your child, there are specific steps you must take to avoid its damaging effects.

Treating PKU Through Diet

• The main feature in treating PKU is strict dietary control. In fact the requirements of a PKU diet are so stringent that lifelong consultation with a doctor or nutritionist is highly recommended. Since phenylalanine is contained in all food proteins, very close attention must be paid to avoiding high-protein foods. This includes meat, poultry, fish, eggs, nuts, legumes, cheese and ice cream. Products made from regular flour should also be limited. A particular substance to be aware of is aspartame. This artificial sweetener, which has worked its way into many processed foods, contains significant amounts of phenylalanine and should not be given to a child or adult with PKU.

  Obviously you will need something to replace the wide range of foods containing phenylalanine. The primary replacement for infants is a special formula called Lofenalac, which helps supply the nutrients needed for good health. Adults with the disorder may continue to use the formula, since the food options for a PKU sufferer remain narrowed for life. Lofenalac is expensive, but programs exist to supplement the cost. Consult your local health or social services agencies if you need assistance. A PKU diet is rounded out by special low-protein foods, as well as fruits, some grains and vegetables.

PKU Medication

• Some PKU patients may also benefit from a drug called Kuvan that accelerates enzyme activity in ways similar to phenylalanine hydroxylase.

Lifelong Vigilance

• It is extremely important to realize that treating PKU is a lifelong activity. While doctors once considered children with the disorder to be safe after the first few years of life, this opinion has changed. Ceasing proper diet later in life has been linked to decreased mental function and attention deficit disorder.