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GENETICDISORDERS

FUCK YOU GOTTA REMEMBER ALL THESE

QuestionAnswer
Albinism Lack of skin pigmentation - Melanin production is absent or occurs in low levels
Cystic fibrosis Results in over-secretion of mucus that clogs the respiratory tract
Galactosemia Results of an abnormality or lack of liver enzymes needed to transform galactose to glucose - galatose accumlates in the blood and leads to mental defects
Phenylketonuria (PKU) result from a lack of enzymes that transform the amino acid phenylalnine, to a second amino acid tryosine. phenylalnine is present in the protein of most foods. phenylaline accumulates in the blood and becomes neurotoxin.
Sickle-cell disease a subsitiution of one amino acid occurs in the amino acid sequence of the protein hemoglobin - alters hemoglobin causes red blood cells to "sickle" - impairs oxygen transport in blood.
Tay-Sach's Disease Deficieny of lysosomal enzymes needed to break down glycolipids in nerve cells - interferes with nerve cell function - nerve impulses slowed.
Achondroplasia Results in dwarfism - Defective cartilages and bone growth
Huntington's Disease Causes in lactic build-up in the brain - affects areas of the brain controlling skeletal muscles contracting- results in jerky abrupt movement and stuttering - leads to dementia and eventually death
Polydactyly the development of extra digits on hands and feet
Colorblindness Results in the inablity 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 individual lack the blood clotting mechanism - can be treasted with medication - can be deadly if untreated - individuals can bleed out.
Duchenne's muscluar dystrophy An important protein in muscle tissue is absent. Leads to the destruction of muscle tissue - destroyed muscle tissue is replaced by fat.
Created by: phurbos
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