phenylketonuria 12345678978978978978.pptx

phenylketonuria

1. PHENYLKETONURIA

2. Phenylketonuria Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine It is due to the defetct of enzyme phenylalanine hydroxylase that breaks down phenylalanine . This enzyme normally converts phenylalanine to another amino acid tyrosine

3. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate (phenylketone), which can be detected in the urine.

4. PKU is caused by a mutated gene for PAH enzyme due to defect in the biosynthesis of cofactor tetrahydrobioptrin (BH4). The PAH gene is located on chromosome 12 . PAH deficiency causes a wide spectrum of disorders including PKU and hyperphenylalaninemia

5. Phenaylalanine It is essential amino acid Normally degraded by way of the tyrosine pathway Phenylalanine and tyrosine are precursor amino acids for important compounds Like: Thyroid hormone, Neurotransmitters, Melanin etc.,

6. Hyperphenylalaninemia ' strictly means elevated blood phenylalanine, it is usually used to describe a group of disorders other than classic PKU.

7. Normal blood phenylalanine level is about 1 mg/dl. In classic PKU, levels may range from 6 to 80 mg/dl, Classic PKU and the other causes of hyperphenylalaninemia affect about 1 of every 10,000 to 20,000

8. PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. Since each parent also has a normal gene, they do not show signs or symptoms of PKU.

9. If it isn't treated, damage to the brain and nervous system can lead to: 1. learning disabilities 2. behavioural difficulties 3. epilepsy

10. Infants with PKU appear normal at birth. Many have blue eyes and fairer Hair and skin than other family members. About 50% of untreated infants have early symptoms, such as vomiting, irritability eczema-like rash, and a musty odor to the urine and the body. Later, severe brain problems occur, such as mental retardation and seizures Jerking movements in arms and legs, Tremors, Mood disorders, Microcephaly,

11. Other commonly noted features in untreated children include: Microcephaly (small head), Prominent cheek and upper jaw bones with widely spaced teeth

12. Microcephaly Microcephaly is a condition where the head (circumference) is smaller than normal

13. Poor development of tooth enamel, and decreased body growth.

14. Pregnancy and PKU Women who have PKU and become pregnant are at risk of another form of the condition called maternal PKU. If women don't follow the special PKU diet before and during pregnancy, blood phenylalanine levels can become high and harm the developing fetus or cause a miscarriage. Complications at birth may include: Low birth weight Delayed development Facial abnormalities Abnormally small head Heart defects and other heart problems Intellectual disability Behavioral problems

15. Follow a low-phenylalanine diet Women with PKU can prevent birth defects by sticking to or returning to a low-phenylalanine diet before becoming pregnant. Consider genetic counseling. If you have PKU, a close relative with PKU or a child with PKU, you may also benefit from genetic counseling before becoming pregnant. Prevention

16. Diagnosis

17. Treatment Oral administration of tetrahydrobioptrin ( a cofactor in the oxidation of phenylalanine) is a good potential for PKU sufferers . Foods to avoid - High protein foods, such as: Meat, Fish, Poultry, Eggs, Cheese Milk and products, Dried beans, and peas

18. No cure Permanent monitoring of blood phenylalanine levels A strictly controlled phenylalanine free diet up to the age of about 14 years old. Phenylketonuria (PKU) can be successfully treated with a low-protein diet and dietary supplements The diet must be strictly followed Those who continue the diet into adulthood have better physical and mental health.

19. PKU medication The Food and Drug Administration (FDA) has approved the drug sapropterin (Kuvan) for the treatment of PKU. It works by increasing your tolerance to phenylalanine. The drug is for use in combination with a PKU diet. But it doesn't work for everyone with PKU.

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