PKU

Phenylketonuria
rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine

What causes it?
mutations cause PKU, others cause non-PKU hyperphenylalaninemia and others are silent mutations that do not have an effect.

Symptoms

• intellectual disabilities or mental retardation.
• tremors or jerky hand and leg movements
• distinct odor in breath, skin, or urine that is often described as musty.
• stunted growth
• eczema

How is it detected/ diagnosed
detected during the first few days of life by two reliable mass screening techniques; and its major consequence, severe mental retardation, can be prevented by the early institution of a low phenylalanine diet. diagnosis in such cases is important because the restrictive diet necessary for patients with phenylketonuria might be harmful to others.

How is it treated?
People with PKU need to follow a diet that limits foods with phenylalanine. The diet should be followed carefully and be started as soon after birth as possible.

Facts of PKU
is a genetic disorder that affects a person’s ability to process an important part of protein called phenylalanine or phe. We get phe from the food we eat, and it helps our bodies grow, learn, and feel healthy.If children and adults with PKU eat too much phe, it will actually hurt them

THATS EVERYTHING YOU NEED TO KNOW ABOUT PKU