Why ?
Phenylketonuria also known as (PKU) , is a rare condition in which the baby is born without the ability
to properly break down an Amino Acid called : PHENYLALANINE. Babies with PKU are missing the
enzyme Phenylalanine. Without enzyme, levels of Phenlylalanine and two closely related substances
build up in the babies body. Those substances are bad to the central nervous system and can cause brain
damage. PKU is inherited or passed down through the family. Both parents must pass on the 'defective'
gene in order for the baby to have the condition, this is called "autosomal recessive trait."
Symtoms ?
*Phenlylalanine plays a really big role with the body production of melanin, pigment skin and hair color.
Babies with this condition have lighter skin, hair, and eyes then the rest of his/her sibilings without this disease
* Slower mental and social skills
* The head size of the baby is below normal
* Hyperactivity
* Jerking movements of arms or legs
* Having problems interacting with other children
* seizures
* unusual positioning of hands
Exam and Test:
PKU can be easily detected with a simple blood test. All of the states in the US
require a PKU screening test for all newborns as part of the newborn screening
panel. The test is generally done by taking a few drops of blood from the baby
before the baby leaves the hospital.
If screening test is positive, doctors take more blood and urine tests
to confirm the diagnosis.
require a PKU screening test for all newborns as part of the newborn screening
panel. The test is generally done by taking a few drops of blood from the baby
before the baby leaves the hospital.
If screening test is positive, doctors take more blood and urine tests
to confirm the diagnosis.
How common is it ?
PKU is a common genetic disease. It happens about 1 in 10,000 to 1 in 15,000 new born babies.
PKU happens according to geographic location and ethnic group.
PKU happens according to geographic location and ethnic group.
Treatment :
PKU is a treatable disease.The treatment involves a diet that is extremely low in
phenylalanine, mostly when the child is growing up. The diet must be strictly
followed. This will require a VERY close supervision by a doctor,
and cooperation of the parent and child. Those who do continue the diet into
adulthood have better physical and mental health. “Diet for life” has become the best phrase
recommended by most experts.
phenylalanine, mostly when the child is growing up. The diet must be strictly
followed. This will require a VERY close supervision by a doctor,
and cooperation of the parent and child. Those who do continue the diet into
adulthood have better physical and mental health. “Diet for life” has become the best phrase
recommended by most experts.
Adittional Information ?
* MedlinePlus
* Genetic and Rare Diseases Information Center
* Additional NIH Resources
* Patient support
* Genetic and Rare Diseases Information Center
* Additional NIH Resources
* Patient support
Refrences:
* American Dietetic Association. Providing nutrition services for infants,
children, and adults with developmental disabilities and special health care
needs. J Am Diet Assoc. Jan 2004; 104(1): 97-107.
* Beblo S. Effect of fish oil supplementation on fatty acid status,
coordination, and fine motor skills in children with phenylketonuria. J
Pediatr. May 2007; 150(5): 479-84.
* Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol. Jun
2006; 33(2): 411-79.
* Welch T. Dietary management of mothers with PKU during pregnancy. J
Pediatr. Feb 2004; 144(2); 1A.
* Welch TR. Pharmacologic approach to PKU? J Pediatr. Jun 2007; 150(6);
A3.
children, and adults with developmental disabilities and special health care
needs. J Am Diet Assoc. Jan 2004; 104(1): 97-107.
* Beblo S. Effect of fish oil supplementation on fatty acid status,
coordination, and fine motor skills in children with phenylketonuria. J
Pediatr. May 2007; 150(5): 479-84.
* Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol. Jun
2006; 33(2): 411-79.
* Welch T. Dietary management of mothers with PKU during pregnancy. J
Pediatr. Feb 2004; 144(2); 1A.
* Welch TR. Pharmacologic approach to PKU? J Pediatr. Jun 2007; 150(6);
A3.