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Phenylketonuria

Phenylketonuria. a) Metabolic block. b) Autosomal recessive . c) Pleiotropism. d) Variable expressivity. e) Effective treatment. f) Screening. Symptoms:(Untreated). 1) Anatomical. Microcephaly (small head) Hypopigmentation (fair eyes, skin, hair). 2) Neurological. Seizures

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Phenylketonuria

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  1. Phenylketonuria a) Metabolic block b) Autosomal recessive c) Pleiotropism d) Variable expressivity e) Effective treatment f) Screening

  2. Symptoms:(Untreated) 1) Anatomical • Microcephaly (small head) • Hypopigmentation (fair eyes, skin, hair) 2) Neurological • Seizures • EEG Abnormalities 3) Motoric • Hypertonicity (“posturing”) • Poor coordination 4) Behavioral • Hyperactivity • Attention Problems • Lower IQ

  3. Tissue Proteins Diet Phenylalanine Tyrosine Phenyalaninehydroxylase (PAH)

  4. Melanin Tissue Proteins Diet Phenylalanine Tyrosine DOPA PAH phenyl- pyruvic acid DA (dopamine) p-hydroxy- phenlypyruvate NE (norepinephrine) homogentisic acid thyroxine

  5. Melanin Tissue Proteins Diet Phenylalanine Tyrosine DOPA PKU phenyl- pyruvic acid DA (dopamine) p-hydroxy- phenlypyruvate NE (norepinephrine) homogentisic acid thyroxine

  6. goitrous cretinism Tyrosinosis p-hydroxy- phenlypyruvate homogentisic acid thyroxine Alkaptonuria Melanin Tissue Proteins Diet Albinism Phenylalanine Tyrosine DOPA PKU phenyl- pyruvic acid DA (dopamine) NE (norepinephrine)

  7. Prevalence of PKU: Ethnic Group: Births: Carriers: Turkish 1/2,500 1/26 Celtic, Northern European 1/5,000 1/33 Other Causacsian 1/10,000 1/50 Japanese 1/150,000 1/200

  8. Diet for PKU: 1) Best: Specially prepared, phe-free foods + supplements 2) Next Best: Fruits, juices, certain veggies 3) Bad: grain products, pasta, other veggies(e.g., rice, potatoes, corn, peas) 4) Really Bad: dairy products, eggs, nuts, meats, fish

  9. Colorado currently screens for: Biotinidase Deficiency Congenital Adrenal Hyperplasia (CAH) Cystic Fibrosis (CF) Galactosemia Hypothyroidism (congenital) Phenylketonuria (PKU) Sickle Cell Disease (SCD) and Hemoglobinopathies http://www.savebabies.org/states/colorado.php

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