How many known mutations are there in the phenylalanine hydroxylase gene?

How many known mutations are there in the phenylalanine hydroxylase gene?

More than 500 mutations in the PAH gene have been identified in people with phenylketonuria (PKU). Most of these mutations change single amino acids in phenylalanine hydroxylase.

What type of mutation causes PKU?

Gene alterations (mutations) in the PAH gene cause PKU. Mutations in the PAH gene cause low levels of an enzyme called phenylalanine hydroxylase. These low levels mean that phenylalanine from a person’s diet cannot be metabolized (changed), so it builds up to toxic levels in the bloodstream and body.

What is the most common mutation in PKU?

Among the novel mutations, five were found in patients with MHP, and the remainder were found in patients with PKU. The most common mutations were R408W, IVS12nt1g–>a, and Y414C, accounting for 18.7%, 7.8%, and 5.4% of the mutant chromosomes, respectively.

Is PKU A deletion mutation?

Point mutations in the PAH gene are known to cause PKU in various ethnic groups, and large deletions or duplications account for up to 3% of the PAH mutations in some ethnic groups.

Where is phenylalanine hydroxylase found in the body?

liver
Phenylalanine hydroxylase (PAH) is expressed in the liver and kidney. Mutations in the gene that expresses PAH can lead to phenylketonuria, a serious metabolic disease. PAH is the enzyme that metabolizes excess phenylalanine.

Why are high levels of phenylalanine bad?

A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain.

What happens if you have too much phenylalanine?

A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body. Neurological problems that may include seizures. Skin rashes (eczema) Fair skin and blue eyes, because phenylalanine can’t transform into melanin — the pigment responsible for hair and skin tone.

Are there genetic variants of the phenylalanine hydroxylase gene?

Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran. Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.

What happens to phenylalanine hydroxylase in humans?

In humans, mutations in the PAH gene lead to phenylketonuria (PKU), and most … Mammalian phenylalanine hydroxylase (PAH) catalyzes the rate-limiting step in the phenylalanine catabolism, consuming about 75% of the phenylalanine input from the diet and protein catabolism under physiological conditions.

How many mutations are there in the PAH gene?

More than 500 mutations in the PAH gene have been identified in people with phenylketonuria (PKU). Most of these mutations change single amino acids in phenylalanine hydroxylase. For example, the most common mutation in many populations replaces the amino acid arginine with the amino acid tryptophan at position 408 (written as Arg408Trp or R408W).

Which is autosomal recessive genetic disease caused by PAH deficiency?

Phenylalanine hydroxylase mutations in the phenylalanine hydroxylase deficiency patients in China. Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway.