Diseases- Biochem Flashcards
Kwashiorkor
high carb and low protein diet
leads to: edema muscle wasting anemia stunted growth skin lesions depigmented hair anorexia enlarged fatty liver
Marasmus
calories and protein deficient
leads to: arrested growth extreme muscle wasting loss of subcutaneous fat weakness anemia
Sickle cell anemia
glutamate is replaced with valine
leads to hydrophobic aggregates that cause:
red cell breakdown
anemia
capillary occlusion and pain in extremities
treated with hydroxyurea to make HbF
HbC
substitutes a E for K to cause mild anemia
Hb Hammersmith
substitutes an F for an S which breaks hydrophobic barrier around heme
Results in heme loss and a dysfunctional hemoglobin
Hb Savannah
substitutes G for a V and causes steric repulsions
leads to an unstable hemoglobin
Hb Milwaukee
V is replaced by a E, results in stabilization of the dysfunctional methemoglobin
Methemoglobin
hemoglobin (Fe2+) gets oxidized to methemoglobin (Fe3+) by the enzyme NADH-methemoglobin reductase
can cause Blue Fugates of Kentucky
Thalassemias
imbalance of globin chains
Glycosylated hemoglobin
seen in diabetes patients where HbA is glycosylated to produce HbA1c
Menkes disease
impaired copper absorption and transport
leads to poor collagen cross linking, floppy muscle, kinky hair, weak bones, deterioration of NS, developmental delay, and intellectual disability
Osteolathyrism
caused by toxic osteolathrogens that inhibit lysyl oxidase
leads to no cross linking and soft deformed bones and weak muscles
Collagen vascular diseases
immune system doesn’t recognize the body’s collagen as native
ankylosing spondylitis systemic lupus erythematosus goodpasture polyarteritis nodosa psoriatic arthritis rheumatoid arthritis scleroderma
Scurvy
vitamin c deficiency
can’t do the hydroxylation step
weak blood vessels and poor wound healing
Ehlers Danlos Syndrome
AD caused by mutations in collagen genes and by defective collagen processing enzymes
weak bones and muscles
hyperextensible skin
hypermobile joints and skin
easy bruising
