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PKU- Cell Storage Disorder!!

PKU- Cell Storage Disorder!!. By: Brianna Hopkins. What is PKU??. Alternative names: Amino Acid Metabolism Phenylketenuria 1 st Discovered by Archibald Garrod. Phenylalanine is an essential amino acid, that can not be synthesized but digested in the body.

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PKU- Cell Storage Disorder!!

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  1. PKU- Cell Storage Disorder!! By: Brianna Hopkins

  2. What is PKU?? • Alternative names: • Amino Acid Metabolism • Phenylketenuria • 1st Discovered by Archibald Garrod. • Phenylalanine is an essential amino acid, that can not be synthesized but digested in the body. • Step 1: Phenylalanine hydroxylase reaction converts phenylalanine into another kind type of amino acid called Tyrosine. • Hydroxylase enzyme reaction needs a cofactor, the cofactor is called biopterin. • Defects affecting the production of biopterin results in another form of PKU called Malignant PKU. • Hydroxylases are also defected, resulting in deficient, Neurotransmitter synthesis and insignificant neurological symptoms. • PKU Is the most common of it’s Kind.

  3. Who is Most Likely to receive the disorder? • This Disorder Is Most Likely Found In New Born Babies • It occurs in people that lack the enzyme to metabolize phenylalanine • A higher percentage of Whites , and Native Americans get it then Blacks, Hispanics , and Asians. • Found On Chromosome 12, PAH Gene • It is a Autosomal recessive Disease. Which Means that both copies in each of the parents carries a mutated gene. ( Signs often don’t show!) • Can be tested for it by screening newborns for blood spots or blood test.

  4. SYMPTOMS • Seizures • Delayed development (Slower Language) • Behavioral issues ( Anxiety) • Psychiatrical disorders • Musty odor from phenylalanine in the body • Lighter skin and hair color indicates classic PKU RESULTS OF THE DISEASE • Mental retardation • Babies with small heads • Growth issues • Heart disease • Permanent intellectual disabillities • Brain, nervous system damage

  5. How Can This Disease be Treated? • One found, in a persons system, the best thing to do is to start a PKU Diet, which deals with cutting out food that consist of protein. For example: Milk, Eggs, Peanut Butter, Cheese, Soy, E.T.C. • Less severe cases may not require treatment w/ PKU Diet. • Also the medicine Sapropterin can help reduce phenylalanine in your blood. • For Babies, Using baby formulas that are limited in phenylalanine content is effective. • A way to prevent The disease from occurring is by starting a PKU diet when as early as possible during pregnancy.

  6. SUPPORT GROUPS !! • National PKU Alliance • Unified to support metabloic disorders (USMD-PKU) • CHILDRENS PKU NETWORK

  7. INTERESTING FACTS • This disease occurs in one of every 13,000 to 19,000 births • Vomiting and diarrhea as a symptom, can cause people who have disease to lose weight.

  8. Works Cited !! • Source 1: webmd.com/parenting.com • Source 2: Medicine.jrank.org/pgs./2520 • Source 3: Medicinenet.com/phenlketonuria

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