Inheritance
An autosomal recessive inheritance pattern that obeys Mendelian genetics
What is the pattern of inheritance that Phenylketonuria follows?
There is no perfect cure for this disease but the symptoms and effects can be mitigated by various treatments.
Are their treatments for Phenylketonuria?
PKU often results in lighter hair and skin due to a decrease in this pigment
What is Melanin?
(PKU)
What is Phenylketonuria?
Someone who has one healthy (PAH) allele and one mutated one
What is a carrier?
A dietary molecule that you cut out to reduce (PKU) symptoms.
What is Phenylalanine?
Phenylketonuria results in a decrease of melanin production
Why is Lighter hair and skin color associated with developing Phenylketonuria?
Although PKU stems from a mutation in the single gene controlling PAH, symptoms can be seen in the brain, the epidermis, and pigment production in hair keratin, indicating that the PAH gene is pleiotropic.
Why is (PKU) pleiotropic?
Two individuals with two different mutations in the same gene, a situation prominent in 72.9% of PKU cases.
What is compound heterozygosity?
A medication that is used as an enzyme substitute. However, reactions may include arthralgia (joint pain) and anaphylaxis.
What is Pegvaliase?
Intelectual disability, psychiatric disorders, and seizures all result in a build up of which amino acid in the Brain.
What is Phenylalanine?
A mutation in the R408W leads to poor enzyme function because it disrupts this structure of protein folding.
What is the active site?
This is the percentage probability that the child will have Phenylketonuria when both parents are carriers of the (PAH) gene mutation
What is 25%
A dietary treatment that's risky because replacing natural proteins can lead to deficiencies in protein folding?
What are Protein Substitutes?
(PKU) manifest in these areas.
What do the brain and skin have to do with (PKU).
The disease will skip a generation unless two carriers have a child. This is because (PKU) can only develop in children who inherit 2 mutated (PAH) alleles.
What is autosomal recessive inheritance?
An experimental treatment that increase neurotransmitter activity by reducing phenylalanine in the brain?
What is LNAA?
Because PAH cannot convert phenylalanine into {..} in someone with PKU, brain neurotransmitter activity falters, contributing to symptoms like seizures and neurological deficiencies.
What is Tyrosine?