Gene mutation due to radiation

3 of the many type’s phenylketonuria, hemochromatosis, and telangiectasia.

Phenylketonuria is 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. Using a blood test, PKU can easily be
found in newborns, and treatment is a diet low in phenylalanine. Also called PKU.

Symptoms of Phenylketonuria (PKU)

 Seizures
 Tremors, or trembling and shaking
 Stunted growth
 Hyperactivity
 Skin conditions such as eczema
 A musty odor of their breath, skin, or urine

If PKU isn’t diagnosed at birth and treatment isn’t started quickly, the disorder
can cause:

 irreversible brain damage and intellectual disabilities within the first few
months of life
 behavioral problems and seizures in older children

Causes of Phenylketonuria PKU is an inherited condition caused by a defect in the

PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme
responsible for breaking down phenylalanine. A dangerous buildup of
phenylalanine can occur when someone eats high-protein foods, such as eggs and
meat.

Both parents must pass on a defective version of the PAH gene for their child to
inherit the disorder. If just one parent passes on an altered gene, the child won’t
have any symptoms, but they’ll be a carrier of the gene.
Hemochromatosis is a condition in which the body takes up and stores more iron than
it needs. The extra iron is stored in the liver, heart, and pancreas, which may cause liver
disease, heart problems, organ failure, and cancer. It may also cause bronze skin,
diabetes, pain in the joints and abdomen, tiredness, and impotence. Hemochromatosis
may be inherited, or it may be caused by blood transfusions. Also called iron overload.

Symptoms of Hemochromatosis (HH)

 fatigue and weakness

 weight loss
 a low sex drive
 abdominal pain
 bronze or gray skin color
 joint pain

Causes of Hemochromatosis there are two forms of hemochromatosis are

primary and secondary.

Primary hemochromatosis

Primary hemochromatosis, also known as hereditary hemochromatosis,

usually results from genetic factors.

Usually, a person with hereditary hemochromatosis inherits a copy of the

defective gene from each parent. However, not everyone who inherits the
genes develops the illness. Researchers are looking into why some people
have symptoms of iron overload and others do not.

In females, symptoms may not appear until after menopause. This is

because menstruation tends to reduce iron levels in the blood. Once
menstruation stops, levels may build up.
Secondary hemochromatosis

Secondary hemochromatosis occurs when a buildup of iron stems from

another medical condition, such as erythropoietin hemochromatosis. In this
disease, the red blood cells release too much iron into the body because
they are too fragile.

Other risk factors for secondary hemochromatosis include:

 alcohol dependency
 a family history of diabetes, heart disease, or liver disease
 taking iron or vitamin C supplements, which can increase the amount of
iron the body absorbs
 frequent blood transfusions
Telangiectasia is the permanent enlargement of blood vessels, causing redness in the
skin or mucous membranes.
Symptoms of Telangiectasia (HHT)

 itching
 threadlike red marks or patterns on the skin
 frequent nosebleeds
 red or dark black blood in stools
 shortness of breath
 seizures
 small strokes
 port-wine stain birthmark

Causes of telangiectasia the exact cause of telangiectasia is unknown.

Researchers believe several causes may contribute to the development of
telangiectasia. These causes may be genetic, environmental, or a combination of
both. It’s believed that most cases of telangiectasia are caused by chronic
exposure to the sun or extreme temperatures. This is because they usually appear
on the body where skin is often exposed to sunlight and air.

Other possible causes include:

 Alcoholism can affect the flow of blood in vessels and can cause liver
disease
 Pregnancy often applies large amounts of pressure on venules
 Aging blood vessels can begin to weaken
 Rosacea enlarges venules in the face, creating a flushed appearance in
cheeks and nose
 Habitual corticosteroid use: thins and weakens the skin
 Scleroderma hardens and contracts the skin
 Dermatomyositis inflames skin and underlying muscle tissue
 Systemic lupus erythematosus can increase skin sensitivity to sunlight and
extreme temperatures

Sources: https://www.healthline.com/health/phenylketonuria#symptoms

https://www.google.com/search?
q=phenylketonuria+pictures&sxsrf=AOaemvIY440ehn8meJ4i9Jk86SMOeaJ52Q:1636102382
235&source=lnms&tbm=isch&sa=X&ved=2ahUKEwjelLyq7ID0AhVPEWMBHdFOBbgQ_AUoA
XoECAEQAw&biw=1396&bih=694&dpr=1.38#imgrc=h05C1P4tF78tCM&imgdii=9TEgUAuxHf
vCKM

https://www.healthline.com/health/hemochromatosis#symptoms

https://www.google.com/search?
q=hemochromatosis&sxsrf=AOaemvLZT6TOxEW8A9GwAbcRDccLTjZlRg:1636103899878&so
urce=lnms&tbm=isch&sa=X&ved=2ahUKEwjJ25H-
8YD0AhU6AmMBHaziCzgQ_AUoAXoECAEQAw&biw=1396&bih=694&dpr=1.38#imgrc=GITM
CG79Vont-M

https://www.healthline.com/health/telangiectasia#symptoms

https://www.google.com/search?q=ataxia-telangiectasia&sxsrf=AOaemvJWvFW0uCd-
UoCyQjLtyt67I0EesA:1636104422276&source=lnms&tbm=isch&sa=X&ved=2ahUKEwixu573
84D0AhUeBmMBHdTwAUQQ_AUoAXoECAEQAw&biw=1396&bih=694&dpr=1.38#imgrc=ng
5v3jxl79wjaM

https://www.cancer.gov/publications/dictionaries/cancer-terms/def/phenylketonuria

https://www.cancer.gov/publications/dictionaries/cancer-terms/def/hemochromatosis

https://www.cancer.gov/publications/dictionaries/cancer-terms/def/telangiectasia