Phenylketoriuria (PKU) Genetic Disorder Phenylketoriuria (PKU)

Phenylketoriuria When the body cannot change one essential amino acid, phenylalanine*, into another needed amino acid, tyrosine*.

*Phenylalanine: one of the 8 essential amino acids, necessary for the basic functioning of human cells. (found in most foods, especially those high in protein) *Tyrosine: amino acid that the body makes from phenylalanine. Often used in protein supplements to treat PKU.

How PKU is inherited: Inherited metabolic disease Autosomal recessive Each copy of the gene has a mutation, meaning both parents carried one copy.

Can someone be a carrier? Yes, it is possible to be a carrier of the PKU disease. If any immediate family member has PKU, you could be a carrier. If one parent is a carrier, you have a 50% of being one.

PKU punnet square

Frequency of PKU disorder: On average, 1 out of 10,000-15,000 babies in the United States are effected. Found less in babies with an African decent (1 out of 50,000).

Symptoms Most symptoms don’t show until 3-6 months after birth. Infants with PKU usually have lighter skin, hair, and eyes than the rest of their family.

Symptoms 2 Eczema rash Seizures Hyperactivity Body odor Mental retardation

How PKU is diagnosed Babies are screened within the first 48 hours of being born. They are given a blood test, which measures their levels of phenylalanine.

Treatment Infants diagnosed with PKU begin treatment immediately to prevent becoming mentally retarded.

Treatment 2 With PKU you are required to eat a special diet that restricts phenylalanine intake. Recommended that those who are on a special diet for PKU, stay on it for the rest of their lives.

Restricted diet People with PKU have to stay away from eating foods with high protein. Meat, Poultry Fish, Milk Eggs, Cheese Ice Cream, Nuts

High Protein Foods

Risk Factors Not following the suggested diet and treatment plans, can result in problems in learning and behavior, and dropping in ones IQ.

Cure for PKU There is not yet a cure for phenylketoriuria disease, but it can be effectively managed. Starting a low-phenylalanine diet as soon as possible after birth can help to avoid the harmful effects.