PHENYLKETONURIA

PHENYLKETONURIA D’evian Biggs

CAUSES • PKU is caused by a mutated gene; The defective gene contains instructions for enzymes that produce phenylalanine (an amino acid) • Since the gene is defective, it causes a complete or nearly complete deficiency of the enzyme. • PKU is inherited and both parents of a person with PKU must be carriers of the defective gene. • Without the enzyme present to process phenylalanine, a large build up can occur when high protein foods are not avoided; foods such as milk, cheese, nuts and meat are good examples.

DIETING • Dieting, with this disease, is one of the most important treatments of PKU. • Children (and or adults) must have a limited amount of phenylalanine intake, which is mostly found in protein rich foods. • In the past, doctors had thought that at the teenage years, one could stop dieting, but today it shows that the diet must remain for life. • Without dieting and taking a PKU formula, the body will not be able to process the amino acids needed to promote growth and general health. • Safe amounts of phenylalanine vary for different people; a doctor will tell the amount of phenylalanine a person may have based on review of their dietary records, amount of phenylalanine in the blood line, and in growth charts. • Foods safe for eating would include fruits, vegetables, gluten free foods, and either water, PKU formula, or juices specially made for the disease.

TREATMENTS/managements • PKU can often be looked at by a metabolic disease clinic • PKU also can be treated with phenylalanine restricted diets often with tyrosine supplementation. (Tyrosine is another essential amino acid used in place of phenylalanine) • Diets have been reported to cause deficiency in important nutrients such as zinc, iron, and selenium so it is recommended that the diet is monitored closely by someone who specializes in PKU.

SYMPTOMS/COMPLICATIONS • Symptoms of PKU may vary depending on severity. • Some include mental retardation (often irreversible), musty or mousy odor in the urine, breath, or skin, stunted growth, bleu eyes and pale or fair skin (because PKU affects melanin) and social and behavioral problems. • Often, irreversible intellectual disability is more common in classic PKU (the most severe). It can be found in less severe versions as well but can be managed more easy by keeping a person with PKU away from high protein foods. ADHD is often present in the disease as well • it’s hard for someone with PKU to socialize with others because of their disabilities..

TESTING AND DIAGNOSIS • Newborn blood testing and screening is required in all 50 states in the USA for PKU. • A test occurs about two days after birth because the test cannot take place before the infant is 24 hours old or has taken in some protein. blood is obtained from the heel of the infant or the bend of its arm. Blood is then taken to a laboratory and tested for certain metabolic disorders, including phenylketonuria. • Additional urine and blood tests may be taken to ensure the child’s diagnosis. If high levels of phenylalanine are shown in the blood, the child will need a special formula.

PREVENTIONS • The prevention of this disease is similar to treatment of the disease. • Women may stick to or return to a low phenylalanine diet to prevent any birth defects. • Genetic counseling is not necessarily a prevention but it helps someone better understand how the disease is passed on.

DIET

MICROPHALY NORMAL HEAD SIZE PKU HEAD SIZE

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FUN FACT! MAY!!!

WORKS CITED • http://emedicine.medscape.com/article/947781-treatment • http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/causes/con-20026275 • PHOTO CREDS: GOOGLE IMAGES

PHENYLKETONURIA