Phenylketonuria (PKU) primarily has two types: Classic PKU and Variant PKU. Classic PKU is caused by a significant deficiency of the enzyme phenylalanine hydroxylase, leading to severe accumulation of phenylalanine. Variant PKU involves a milder deficiency of the same enzyme or other related enzymes, resulting in a less severe metabolic impact. There is also a rare form known as Non-PKU Hyperphenylalaninemia, which involves elevated phenylalanine levels without the typical symptoms of PKU.
If Todd has PKU, he would be homozygous for the gene associated with PKU, meaning he has two copies of the faulty gene. This would result in the expression of the PKU disorder.
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Phenylketonuria (PKU) itself is a metabolic disorder, primarily characterized by the inability to metabolize phenylalanine due to a deficiency in the enzyme phenylalanine hydroxylase. While PKU does not have multiple distinct disorders associated with it, it can lead to various complications if untreated, such as intellectual disability and neurological issues. Additionally, there are different forms of PKU, including classic PKU and variant PKU, which differ in severity based on the level of enzyme activity.
First case of PKU was reported in Munster Germany in 1964.
PKU is a genetic disorder that, when untreated, is characterized by mental ... but, in a person with PKU, this enzyme is defective.
phenylketonuria
PKU
list 3 advantages n disadvantages on pku testing on newborns
You can induce serious symptoms of PKU, esp behaviour and other mental problems.
Phenylketonuria (PKU) is inherited when both parents are carriers of the gene. Since it is a recessive gene, there is a 25% chance that any baby conceived by two people carrying the PKU gene will have PKU.
People with PKU are highly prone to development of diabetes.
PKU patients who do not consume enough tyrosine in their diet cannot produce sufficient amounts of dopamine.