week 4

Question 1

Kwashiorkor

Answer 1

protein-energy malnutrition, diet severely lacking proteins, but has adequate calories; not enough amino acids for protein synthesis, get muscle wasting because break down of own muscle to mobilize amino acids; fatty liver because can’t export fatty acids without VLDP (lack of protein carrier), hypoalbuminema- not enough albumin in blood, blood is hypo-osmolar so leads to fluid retention in extravascular spaces (ascites-large belly)

Question 2

Marasmus

Answer 2

deficiency in energy and calories, emaciated because body breaks down its own proteins for gluconeogenesis

Question 3

Chronic lymphedema

Answer 3

lymphatic damage results in poor lymphatic drainage, can’t return fluids back into the blood as well, leading to edema in the interstitial space, can occur in localized distribution (after radiation therapy for breast cancer); elephantiasis: when lymphatic dysfunction is due to parasitic roundworms

Question 4

Tay Sachs

Answer 4

mutation in the Hex A gene leads to a loss of function in the hexosaminidase A, leading to a buildup of GM2

Question 5

Sandhoff’s disease

Answer 5

mutation in the Hex B gene, which results in loss of activity in Hexoaminidase A and B and buildup of globoside and GM2

Question 6

Sandhoff’s activator disease

Answer 6

mutation results in loss of activator protein required for Hex A activity, leads to Tay Sachs symptoms and a buildup of GM2; Hex B does not need the activator; activator important for positioning the lipids in the Hex A active site