Genetic Disorder Research Project on Phenylketonuria(PKU)

What are the symptoms of the disorder?

• as infants the children develop permanent intellectual disability



• seizures



• delayed development



• psychiatric disorders are also common



• musty or mouse-like odor as a side effect of excess phenylalanine in the body



• have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema



• infants have a low birth weight and grow more slowly than other children



• heart defects or other heart problems



• abnormally small head size



• behavioral problems



• Vomiting and diarrhea, leading to weight loss



• Sensitivity to light



• Unusual behavior, such as screaming episodes, repetitive rocking, head banging, and arm biting



• Hyperactivity

How is the disorder inherited? What chromosome is gene carried on? Is the Disorder a chromosome number disorder? Is the disorder sex-linked?Dominant? Recessive?

Phenylketonuria is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. PKU is a sex-linked disorder.

At what age does this order first become evident?(Is this disorder a late onset disorder?)

Doctors can begin noticing children at the earliest of four weeks old. This disorder is not a late onset.

Is the disorder variably expressed? Does the environment or other genes affect how this disorder is expressed? What are the variables that affect how this disorder is expressed?

PKU is a classic example of gene-environment interaction. Here are some patterns of gene-environment interactions:

1. Increased only in the presence of both the susceptibility genotype and the environmental factor;


2. Increased by the environmental factor alone but not by the genotype alone;


3. Increased by the genotype alone but not by the environmental factor alone;


4. Increased by either, with joint effects being additive or multiplicative;


5. Reduced by the genotype and not affected by the environmental factor alone, but increased in the presence of both; or


6. Reduced by the genotype, increased by the environmental factor, and increased by the presence of both.

Can the disorder be detected before birth? How can you detect the disorder before birth?

No, this disorder can not be noticed before the baby is born.

Can parents be tested to see if they are carries? If so, how does the test work?

Parents can be tested to see if they are carries,however, most of the time they are not tested until they noticed PKU in their family history or until one of their children has the disorder. Newborn screening is available, but is only for children.

Can the environment be altered to affect the expression of the disorder? If so, how would you change the environment so that the disorder is less severe?

There are no environmental things that affect PKU beside the sun, but if your is a environmental loving home instead of a poor case of a household the child is in better health.

Foundation for PKU: https://www.pkufoundation.com/
Media Source: www.youtube.com/watch?v=KUJVujhHxPQ

Resources: http://www.wrongdiagnoses.com/
http://www.marchofdimes.com/
http://www.answers.com/
http://health.state.ga.us/