Montgomery Blair High School
Silver Spring, Maryland 20901
- Phenylketonuria - this disease, also known as PKU, is caused by an
inborn error of metabolism. PKU is autosomal recessive, which means that
babies born with PKU have two abnormal copies of the gene phenylalanine
hydroxylase. This gene codes for an enzyme that converts the amino acid
phenylalanine to the amino acid tyrosine. A defective enzyme results in a
build-up of phenylalanine. The high levels of phenylalanine result in
mental retardation. The disease may be detected at birth through the
routine newborn blood screening. If PKU is detected, the patient must
follow a diet that restricts phenylalanine ingestion. Strict adherence to
the diet is necessary to prevent the devastating effects of PKU.
- Search for the phenylalanine hydroxylase gene. (See Directions)
- Perform a restriction analysis. (See Directions)
- Identify and classify known mutations of the phenylalanine hydroxylase
enzyme. (See Directions)
- Find a known mutation that alters a restriction site.
- Devise a restriction analysis test that could be used to detect a
particular defect in a gene.
- Amyloidosis - this disease is caused by an abnormal accumulation of
amyloid protein. Amyloidosis is observed in a variety of disorders such as
rheumatoid arthritis, diabetes, and Alzheimers. The disorder, commonly
seen in dogs, is often caused by lysozyme enzyme abnormalities. Although
the disease may affect any breed of dog, the disease is more common in
certain breeds of dogs. For example, beagles, collies and Shar-Peis are at
greater risk of amyloidosis. The accumulation of amyloid protein can occur
in any organ and interferes with the normal functions of that organ.
- Find information about the lysozyme enzyme. (See Directions)
- Investigate biochemical pathways. (See Directions)
- Discover the diseases associated with the lysozyme enzyme. (See Directions)