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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

Do Omelets Make You Angry?

A Study of the Cause and Effects of Phenylketonuria

Jennifer Seals

history
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

symptoms
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.

slide6
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

slide7
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)

guthrie test
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

serum analysis
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

other options
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
treatment
Treatment
  • Diet
    • Avoid meat, fish, egg, dairy, nuts, breads, and artificial sweeteners
    • Inconvenient
    • Expensive
treatment1
Treatment
  • Supplementary formulas
    • Phenylalanine-free amino acid mixture
    • Contains other vitamins, minerals, and energy sources
importance of maintaining the diet
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.

current research
Current Research

Pharmacological chaperones

Enzyme replacement therapy with phenylalanine ammonia lyase

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