mcrh.org
*Home>>>Phenylketonuria

What is the latest nutritional treatment for phenylketonuria?


What is the latest nutritional treatment for phenylketonuria?

Phenylketonuria (PKU) is a rare hereditary condition in which the amino acid phenylalanine is not properly metabolized. PKU can cause severe mental retardation if not treated.

Phenylalanine is 1 of the 8 essential amino acids found in protein-containing foods. In PKU, phenylalanine cannot be used in a normal fashion because of the missing enzyme. Subsequently, high levels of phenylalanine, and 2 closely-related phenylalanine derivatives, build up in the body. These compounds are toxic to the central nervous system and cause brain damage.

Damage to the brain causes marked mental retardation by the end of the first year of life if the offending proteins are not scrupulously avoided. Older children may develop movement disorders (athetosis), rocking, and hyperactivity.

PKU is a treatable disease that can be easily detected by a simple blood test. Most states require a screening test for all newborns, generally done with a heelstick shortly after birth.

Because phenylalanine is involved indirectly in the production of melanin, the pigment responsible for skin and hair color, children with phenylketonuria often have lighter complexions than their unaffected siblings. There is a characteristic "mousy" odor that results from the accumulation of phenylacetic acid. This odor may be detected on the breath, skin, and urine if the condition has not been treated immediately from birth or if foods containing phenylalanine are consumed.

Treatment includes a diet that is extremely low in phenylalanine, particularly when the child is growing. Strict compliance to the diet is necessary to prevent or minimize mental retardation. This requires close supervision by a registered dietitian or physician, and cooperation of the parent and child.

Phenylalanine occurs in significant amounts in milk, eggs and other common foods. Nutrasweet (aspartame) also contains phenylalanine, and products containing aspartame should be avoided by children with this disorder. A special infant formula called Lofenalac is made for infants with PKU. It can be used throughout life as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids.

Adult women who have PKU and who plan to become pregnant should also adhere to a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy.

I'm not sure about latest, things haven't changed too much regarding their diet, however, what the dieticians are trying now in australia is making fruits and vegetables that are 2 grams or less of protein free (not counted in the diet) more to promote healthy eating.
Also there is a drug (tablet, i think) that they are also testing. you take the tablet and it helps the body absorb the protein/phenylalanine much more quicker then what the phenylketonuric's body does naturally, So far its worked but there is a long process to be done with new drugs on the market and there's also governament funding etc.
I'm keeping a close eye on that one.

Tags
  PID   Physical Therapy   Phosphorus   Phobias   Phlebitis   Pheochromocytoma   Phenylketonuria   Pharynx Disorders   Pharynx Cancer   Phantom Limb   Pfiesteria Infections   PET Scans   Pesticides
Related information
  • Where can I find recipes for Phenylketonuria (PKU)?

    ...

  • How does a person inherit phenylketonuria?

    It's in the genes unfortunately, but these days it is more treatable.

    ...
  • What are the symptoms of phenylketonuria?

    Infants with PKU appear normal at birth. Many have blue eyes and fairer hair and skin than other family members. Currently, most symptoms of untreated PKU are avoided by newborn screening, earl...

  • I NEED HELP?? PKU-Phenylketonuria????

    2nd person sounds correct to find out the phe level ( Phenylalanine level) you prick your finger with a some sort of needle that the specal doctors supply you with and you squeeze the blood on ...

  • Can anyone tell me about Phenylketonuria?

    Phenylketonuria (PKU) is a genetic disease of the human body where there is a deficiency of an enzyme that turns amino acid phenylalanine into tyrosine. It is rare. See the wiki page for a go...

  • Disease phenylketonuria (PKU)?

    PKU is actually caused by a mutation of a gene called phenylalanine hydroxylase (PAH). Every person has two of these genes. In order for PKU to occur in a person, both copies of this gene must be...

  • Phenylketonuria (PKU)?

    Phenylketonuria is a clinical syndrome of mental retardation with cognitive and behavioral abnormalities caused by elevated serum phenylalanine. The primary cause is deficient phenylalanine hydroxy...

  • Questions about pku ( phenylketonuria) best answers get 12 points?

    It's a genetic disorder that is controlled by diet. There is a deficiency in amino acid and pku, problems with brain developement which can cause retardation and seizures, You must eliminate...

  •  

    Categories--Copyright/IP Policy--Contact Webmaster