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.
A Study of the Cause and Effects of Phenylketonuria
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
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.
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
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)
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
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
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.
Enzyme replacement therapy with phenylalanine ammonia lyase