Lipid transport, misc

Question 1

Apo-A1
molecule
function

Answer 1

HDL

cofactor of LCAT - esterification of cholesterol

Question 2

ApoB-48
molecule
function

Answer 2

chylomicron assembly and secretion by intestine

Question 3

ApoB-100
molecule
function

Answer 3

LDL uptake by extrahepatic cells

Question 4

ApoC-II
molecule
function
type of hyperlipoproteinemia

Answer 4

VLDL and chylomicrons
activation of lipoprotein lipase to provide FFAs for cells
type IB

Question 5

ApoE3 and -E4
molecule
function

Answer 5

VLDL and chylomicron reuptake by hepatocytes

Question 6

PKU
mode of inheritance
deficiency
Sx
Tx

Answer 6

Phenylalanine hydroxylase deficiency OR tetrahydrobiopterin (THB) cofactor
AR
Sx: mental and growth retardation, seizures, fair skin, eczema, musty odor.
Tx: lower Phe, raise Tyr intake (Tyr becomes an essential aa).

Question 7

findings in infant w/ maternal PKU

Answer 7

microcephaly, mental and growth retardation, heart defects.

Question 8

Alkaptonuria cause and findings

Answer 8

deficiency of homogentisic acid oxidase in Tyr catabolism to fumarate causes buildup of homogentisic acid (alkapton).
- dark conn tissue, sclera, urine turns black in air. may have debilitating arthralgias. otherwise benign.

Question 9

Two causes of albinism

Answer 9

both lead to lack of melanin
1. tyrosinase (Tyr->melanin)
2. defective Tyr transporters
May result from a lack of migration of neural crest cells.