What terms describe PKU as a trait quizlet?

Terms in this set (10) Phenylketonuria (PKU) is a genetic disorder in which the body can’t metabolize phenylalanine due to the absence of the phenylalanine-hydroxylase enzyme. This results in a build up of phenylalanine to toxic levels.

What is the main genetic reason behind phenylketonuria?

Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase . This enzyme converts the amino acid phenylalanine to other important compounds in the body.

How is phenylketonuria characterized?

Phenylketonuria (PKU) is an inborn error of metabolism that is detectable during the first days of life via routine newborn screening. PKU is characterized by absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for processing the amino acid phenylalanine.

What chromosomes are affected in phenylketonuria?

Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12.

Is the PKU gene dominant or recessive?

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

How is phenylketonuria normally tested quizlet?

A PKU screening test is a blood test given to newborns 24–72 hours after birth. PKU stands for phenylketonuria, a rare disorder that prevents the body from properly breaking down a substance called phenylalanine (Phe). Phe is part of proteins that are found in many foods and in an artificial sweetener called aspartame.

What phenylketonuria means?

Listen to pronunciation. (FEH-nil-KEE-tone-yoor-ee-uh) An inherited disorder that causes a build-up of phenylalanine (an amino acid) in the blood. This can cause mental retardation, behavioral and movement problems, seizures, and delayed development.

What is phenylketonuria lab test quizlet?

Which of the following is the common symptom of phenylketonuria?

Small head size, called microcephaly (pronounced mahy-kroh-SEF-uh-lee) A musty odor in urine, breath, or skin that is a result of the extra phenylalanine in the body. Fair skin and blue eyes, due to the body’s failure to transform phenylalanine into melanin, the pigment responsible for a person’s coloring.