Where is phenylalanine hydroxylase in the cell?
Where is phenylalanine hydroxylase in the cell?
Liver cells
Phenylalanine is one such essential amino acid. It is closely related to another amino acid, tyrosine, which just has an additional hydroxyl (OH) group. Liver cells contain an enzyme called phenylalanine hydroxylase, which can add this group and convert phenylalanine to tyrosine.
What is the function of phenylalanine in the body?
Function: The essential amino acid L-phenylalanine (Phe) is needed for the synthesis of proteins, catecholamines, and melanin; it is also an important precursor of the amino acid L-tyrosine (Tyr).
What will happen in the cells of someone who does not make phenylalanine hydroxylase?
Phenylalanine is found in proteins and some other foods. If individuals with PAH deficiency do not get treatment, phenylalanine can accumulate to harmful levels, which can cause irreversible intellectual disability, seizures, developmental delay, and behavioral problems.
What is the mechanism of phenylalanine hydroxylase?
Phenylalanine hydroxylase (PheH) catalyzes the hydroxylation of phenylalanine to tyrosine (Scheme 1) in catabolism of phenylalanine in the liver, with tetrahydrobiopterin (BH4) supplying the two electrons needed for the reaction (1).
What type of enzyme is phenylalanine hydroxylase?
monooxygenase
PAH is one of three members of the biopterin-dependent aromatic amino acid hydroxylases, a class of monooxygenase that uses tetrahydrobiopterin (BH4, a pteridine cofactor) and a non-heme iron for catalysis.
What protein is affected by phenylketonuria?
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid ) that is obtained through the diet.
What is phenylketonuria PKU )? How important is the synthesis of correct proteins?
Phe is an essential amino acid obtained exclusively by the diet or by proteolysis. It is crucial for protein synthesis, as well as for the synthesis of Tyr and its derivatives, such as dopamine, norepinephrine, and melanin [1,2]….Table 2.
Reference | Sample | Findings |
---|---|---|
Justice and Hsia, 1965 | Mouse brain | ↓ 5THD |
How does phenylketonuria affect the body?
Phenylketonuria (PKU) is a treatable disorder that affects the way the body processes protein. Children with PKU cannot use a part of the protein called phenylalanine. If left untreated, phenylalanine builds up in the bloodstream and causes brain damage.
What is the expected result of a deficiency in the enzyme phenylalanine hydroxylase in children with phenylketonuria PKU )?
Without the enzyme necessary to break down phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener. This can eventually lead to serious health problems.
Is phenylalanine hydroxylase liver enzyme?
Phenylalanine hydroxylase (PheH), a liver enzyme that catalyzes the hydroxylation of excess phenylalanine in the diet to tyrosine, is activated by phenylalanine.
How does phenylketonuria affect cells?
The PKU gene tells the cell to make an enzyme that breaks down the amino acid phenylalanine. Faults in the genes (mutations) may cause problems in the body because the correct message is not being sent. In PKU, the cells are not making the enzyme that breaks down phenylalanine, so it builds up in the blood and tissues.
How does PKU affect the body at a cellular level?