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Phenylketonuria (PKU)

Phenylketonuria (PKU). Cindy Lee. WHAT IS IT?. autosomal recessive metabolic generic disorder Mutation in the gene for phenylalanine hydroxylase (PAH) a hepatic enzyme PAH is used to metabolize phenylalanine (Phe –amino acid) into tyrosine.

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Phenylketonuria (PKU)

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  1. Phenylketonuria (PKU) Cindy Lee

  2. WHAT IS IT? • autosomal recessive metabolic generic disorder • Mutation in the gene for phenylalanine hydroxylase (PAH) a hepatic enzyme • PAH is used to metabolize phenylalanine (Phe –amino acid) into tyrosine. • The mutation in the enzyme makes the enzyme nonfunctional

  3. When phenylalanine piles up, it turns into phenylpyruvate, which is also known as phenylketone  can be detected in your pee

  4. WHEN LEFT UNTREATED… • May lead to: • mental retardation • Seizures • Serious medical problems

  5. DETECTION TECHNIQUES • Babies are screened for PKU soon after birth in developed nations • Screening is done by: • Guthrie Test (bacterial inhibition assay) • Immunoassays (fluorometric/photometric detection) • Tandem Mass Spectrometry (MS/MS) • Amino acid measurement

  6. SCREEN TESTING • Routine newborn screening test is typically performed 2-7 days after birth • Uses samples drawn by neonatal heel prick • The disease may be present with seizures, albinism, and a musty odor (due to phenylacetate produced in sweat and urine) • Usually, tests are repeated at two weeks of age • In order to verity the initial test

  7. NEONATAL HEEL PRICK ALBINISM

  8. LACK OF TREATMENT = • Although generally healthy at birth, they • fail to attain early developmental milestones • Develop microcephaly • Demonstrate progressive impairment of cerebral function • Later in life: • Show hyperactivity • EEG abnormalities • Seizures • Severe learning disabilities • “musty/mousy” odor of skin, hair, weat, and urine • tendency towards hypopigmentation • tendency towards eczema

  9. IN CONTRAST… • affected children who are treated • Less possibility for neurological problems • Less likely to have seizures • Less likely to have mental retardation

  10. INCIDENCES

  11. NORMAL PKU PROTEIN FROM FOOD PROTEIN FROM MUSCLE PROTEIN FROM FOOD PROTEIN FROM MUSCLE AMINO ACID AMINO ACID OTHER AMINO ACIDS OTHER AMINO ACIDS PHENYLALANINE PHENYLALANINE BUILD UP OF PHE PHENYLALANINE HYDROXYLASE PHENYLALANINE HYDROXYLASE HEALTH PROBLEMS TYROSINE TYROSINE

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