PKU
SUMMARY
Phenylketonuria, PKU, is a rare inherited genetic disorder that causes an amino acid called phenylalanine to build up in the body (“PKU”). PKU is caused by a detect in the gene that helps create the enzyme needed to break down phenylalanine . For the rest of their lives people with PKU ( babies,children and adults) need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein.
According to the Mayo Clinic, PKU symptoms can be severe and may include :
- Musty breath odor , skin , and urine , which can be caused by a lot of phenylalanine in the human body.
- Skin rashes .
- Hyperactivity ( to be extremely active )
- Neurological problems that come along with seizures.
- Light skin,blue eyes because phenylalanine can form into melanin ( the pigment responsible for hair & skin tone )
TREATMENTS
These treatments include large neutral amino acid supplementation , which may help prevent phenylalanine from entering the brain (PKU).There is no cure for PKU but treatment can prevent intellectual disabilities . There is also something known as the PKU diet , people with PKU need to follow a diet that limits foods with phenylalanine . However they now recommend that people with PKU stayb on their diet throughout their lives for better physical and mental health.
Mode of Genetic Inheritance:
- PKU is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered (Learning About PKU). Usually each parent of an individual who has PKU carries one copy of the altered gene.“According to .
How common is the Genetic Disorder:
- In the United States PKU occurs in 1 and 10,000 to 15,000 newborns . Most cases of PKU are detected shortly after birth by newborn screening , and treatment is started promptly( PKU) .