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Do Omelets Make You Angry?

Do Omelets Make You Angry?. A Study of the Cause and Effects of Phenylketonuria Jennifer Seals. History. Discovered by Ivan Folling in 1934 A mentally handicapped patient presented with a “mousy” odor to his urine Performed several procedures to the source- phenylpyruvic acid.

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Do Omelets Make You Angry?

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  1. Do Omelets Make You Angry? A Study of the Cause and Effects of Phenylketonuria Jennifer Seals

  2. History Discovered by Ivan Folling in 1934 A mentally handicapped patient presented with a “mousy” odor to his urine Performed several procedures to the source- phenylpyruvic acid. Concluded that it was the result of a build of phenylalanine

  3. Symptoms Initially non-specific (vomiting, irritability, rash, musty odor to urine, sweat, and skin) Untreated- can develop into more harmful neurological conditions Most common complaints of PKU patients are tiredness, inability to concentrate, and irritability.

  4. Phenylalanine Hydroxylase

  5. PAH Operates in the liver Catalyzes the hydroxylation of phenylalanine to tyrosine Uses tetrahydrobiopterin (BH4) as a cofactor Vital for the synthesis of other amino acids, structural components, and neurotransmitters Most mutations cause misfolding

  6. BH4 Some hyperphenylalanemia situations occur due to lack of BH4 PAH cannot function effectively without its cofactor Patients with this form of PKU can be treated through diet restrictions and BH4 supplementation (Kuvan)

  7. Methods of Detection

  8. Guthrie Test Heel-stick to draws sample blood The blood is placed on filter paper The filter paper is put on culture media infused with beta-2-thienylalanine and streaked with Bacillus subtilis Beta-2-thienylalanine is inhibitor of Bacillus. Subtilis and is neutralized by large amounts of phenylalanine Semiquantitative

  9. Serum Analysis Uses serum instead of blood More proteins are concentrated in the serum so less blood is needed from the patient Uses colorimetric test More quantitative, comfortable, cheaper, faster, easier to ship

  10. Other Options • Urinary test • Measures phenylketones in urine • Take 2-6 weeks for these metabolic products to accumulate in urine • Often used for monitoring the levels of phenylalanine • Mass Spectrometry

  11. Treatment • Diet • Avoid meat, fish, egg, dairy, nuts, breads, and artificial sweeteners • Inconvenient • Expensive

  12. Treatment • Supplementary formulas • Phenylalanine-free amino acid mixture • Contains other vitamins, minerals, and energy sources

  13. Importance of Maintaining the Diet Increases alertness, reaction time, and energy while decreasing irritability and depression Adults that no longer follow the diet can develop neurological impairments, most often related to the motor functions of the brain.

  14. Maternal PKU

  15. Current Research Pharmacological chaperones Enzyme replacement therapy with phenylalanine ammonia lyase

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