How Do You Spell PHENYLKETONURIA II?

1. Phenylketonuria II (PKU II) is a rare inherited metabolic disorder that affects the body's ability to break down an amino acid called phenylalanine. It is characterized by a deficiency of the enzyme dihydropteridine reductase (DHPR), which is responsible for converting a molecule called dihydrobiopterin (BH2) back into its active form, tetrahydrobiopterin (BH4). This conversion is essential for another enzyme, phenylalanine hydroxylase (PAH), to function properly and break down phenylalanine.

   Due to the deficiency of DHPR, BH2 accumulates in the body, leading to decreased levels of BH4. As a result, PAH cannot efficiently convert phenylalanine into tyrosine, causing phenylalanine levels to rise to toxic levels in the blood and other tissues.

   The main symptoms of PKU II include developmental delay, intellectual disability, seizures, behavioral problems, and a musty odor in the breath, skin, and urine due to the accumulation of phenylalanine and its byproducts. Without treatment, PKU II can result in severe brain damage and other complications.

   PKU II is diagnosed through genetic testing and biochemical analysis to measure phenylalanine levels in the blood. The primary treatment for PKU II involves a strict, lifelong diet that restricts phenylalanine intake to prevent its accumulation. This diet involves avoiding high-protein foods and consuming special formulas low in phenylalanine. BH4 supplementation may also be effective in some cases.

   In summary, PKU II is a genetic disorder characterized by a deficiency of DHPR enzyme, leading to the accumulation of phenylalanine and decreased conversion of BH2 to BH4. It results

Common Misspellings for PHENYLKETONURIA II

The word "Phenylketonuria" has the following etymology:

1. Phenyl: The term "phenyl" comes from the Greek word "phaino", which means "to show or appear". In chemistry, it refers to a group or radical derived from benzene (C₆H₆), consisting of a six-membered carbon ring with five carbon atoms and one hydrogen atom.

2. Ketone: The term "ketone" comes from the German word "keton" which was derived from the combination of the Greek word "két(o)-" meaning "to comb" and the German suffix "-on" meaning "chemical particle". Ketones are a class of organic compounds characterized by the presence of a carbonyl group (C=O) attached to two carbon atoms.

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