What type of genetic effect is PKU?

What type of genetic effect is PKU?

PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene.

Is PKU a single gene disorder?

Phenylketonuria (PKU) is a prominent example of a single-gene disease with an autosomal recessive inheritance pattern.

What chromosome determines PKU?

Since the hypothesis that classical PKU is caused by structural mutations in the phenylalanine hydroxylase gene itself rather than through some transregulatory mechanisms has recently been confirmed by gene mapping, the PKU locus in man is determined to be on chromosome 12.

What chromosome is the PAH gene on?

PAH is a hepatic enzyme that catalyses the hydroxylation of L-Phenylalanine (L-Phe) to L-tyrosine using tetrahydrobiopterin (BH4) as a cofactor. The human PAH gene, which is located on chromosome 12q, consists of 13 exons spanning 90 kb.

What is the genetic and biochemical basis for PKU?

Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine (Phe) metabolism resulting from deficiency of phenylalanine hydroxylase (PAH). Most forms of PKU and hyperphenylalaninaemia (HPA) are caused by mutations in the PAH gene on chromosome 12q23. 2.

Which are the chromosomal disorders?

Key points. Some chromosomal abnormalities occur when there is an extra chromosome, while others occur when a section of a chromosome is deleted or duplicated. Examples of chromosomal abnormalities include Down syndrome, Trisomy 18, Trisomy 13, Klinefelter syndrome, XYY syndrome, Turner syndrome and triple X syndrome.

Is the PKU gene dominant or recessive?

For a child to inherit PKU, both the mother and father must have and pass on the defective gene. This pattern of inheritance is called autosomal recessive.

What cells are affected by PKU?

PKU affects the brain. The signaling molecules that brain cells use to communicate with each other are called neurotransmitters. When neurotransmitters are not made in the right amounts, the brain cannot function properly.

Can a parent who does not have PKU have a child with PKU?

If your partner does not have PKU and is not a carrier of the disease, none of your children will have PKU. They will, however, all be carriers of the disease because they will have inherited one faulty copy of the PAH gene. This means that they will have a risk of passing the mutated gene onto their own children.

Is PKU a silent mutation?

Likewise, silent mutations that cause such skipping of exon excision have been identified in genes thought to play roles in genetic disorders such as Laron dwarfism, Crouzon syndrome, β+-thalassemia, and phenylalanine hydroxylase deficiency (phenylketonuria (PKU)).

What is the medical term for genetic disease known as PKU?

Phenylketonuria (fen-ul-key-toe-NU-ree-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.

Is there a cure for PKU?

There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder. (Visit the Resources and Publications section for ways to locate a center.)