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AR Genetic Disorders

Genetic Disorders

QuestionAnswer
Phenylketonuria(PKU) -autosomal recessive<br> -inability of the body to utilize the essential amino acid, phenylalanine<br> -occurs in one of every 10,000 to 20,000 Caucasian or Oriental births<br> -rare in African Americans<br> -occurs equally in male and females
Phenylketonuria(PKU)[2] -untreated infants have early symptoms, such as vomiting, irritability, an eczema-like rash, and a mousy odor to the urine, increased muscle tone, and more active muscle tendon reflexes<br> -severe brain damage if caught later in life
Phenylketonuria(PKU)[3] -usually have blue eyes, fairer hair and skin than other family members<br> -small head, prominent cheek and upper jaw bones with widely spaced teeth, poor development of tooth enamel, and decreased body growth
Phenylketonuria(PKU)[4] -no real treatment but must have a strict diet<br> -children with strict diets started at birth can have a normal life span
Sickle-cell anemia -autosomal recessive<br> -the body makes sickle-shaped, shaped like a c, red blood cell<br> -Sickle-shaped cells don’t move easily through your blood vessels, tend to clump
Sickle-cell anemia [2] -symptoms can either be mild or severe, usually linked to anemia and pain<br>-has no widely available cure but treatments can help relieve symptoms and treat complications
Sickle-cell anemia[3] -in America it affects 70,000–100,000 people, mainly African Americans<br>-most common in people whose families come from Africa, South or Central America, Caribbean islands, Mediterranean countries , India, and Saudi Arabia
Sickle-cell anemia[4] -goals of treating sickle cell anemia are to relieve pain; prevent infections, eye damage, and strokes<br>-bone marrow transplants can sometimes be a cure<br>-with the right treatment a person can live to be between 40 and 60
Created by: braelynand13
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