Albinism

lack of skin pigmentation -melanin production is absent or occurs in low levels

Cystic fibrosis

most common lethal genetic disorder in the U.S. -results in over-secretion of mucus that clogs the respiratory tract -leads to fatal respiratory infections

Galactosemia

results from an abnormality or lack of liver enzymes needed to transform galactose to glucose -galactose accumulates in the blood and leads to mental defects

Phenylketonuria (PKU)

results from a lack of enzymes that transform the amino acid phenylalanine, to a second amino acid tyrosine. -phenylalanine is present in the protein of most foods -phenylalanine accumulates in the blood and becomes a neurotoxin -diet required, containing no phenylalanine

Sickle-cell Disease

a substitution of one amino acid occurs in the amino acid sequence of the protein hemoglobin -the altered hemoglobin causes red blood cells to “sickle” -impairs oxygen transport in blood

Tay-Sach’s Disease

deficiency of a lysosomal enzyme needed to break down glycolipids in nerve cells -interferes with nerve cell functioning-nerve impulses slowed

Achondroplasia

results in dwarfism -defective cartilage and bone growth

Huntington’s Disease

causes in lactic acid build -up in the brain-affects areas of the brain controlling skeletal muscle contractions -results in jerky, abrupt movements and stuttering -leads to dementia and eventually death

Polydactyly

the development of extra digits on hands and feet

Colorblindness

results in the inability to see color -inactivates some color receptors called cones, which are located on the retina of the eye

Male-pattern Baldness

the early loss of hair -enzymes that allow for the production of testosterone stop functioning -no new hair grows and existing hair is released from hair follicles

Hemophilia

disorder where individuals lack the blood clotting mechanism -can be treated with medication-can be deadly if untreated – individuals can bleed out

Duchenne’s Muscular Dystrophy

an important protein in muscle tissue is absent -leads to the destruction of muscle tissue -destroyed muscle tissue is replaced by fat and connective tissue -begins in limbs and moves upwards -respiratory failure occurs in individuals in early 20’