HMPP/Sugar Problems

Question 1

4 Functions of NADPH

Answer 1

1. FA/Cholesterol Synth
2. Generate O2 free radicals (oxidative burst in phagolysosomes)
3. Protection from free rads (RBCs)
4. Cytochrome p450 system

Question 2

G6PD Deficiency (inheritance, what it is/causes, precipitations, blood findings)

Answer 2

XLR, Can’t make NADPH so can’t reduce glutathione to protect RBCs from free radicals
Get non-immune HA from oxidizing agents (fava beans, antimalarials or anti-TB drugs) or stress/infection
See Heinz bodies (denatured Hb in RBCs) and Bite cells (from macs consuming Heinz bodies)

Question 3

Essential Fructosuria

Answer 3

Defect in fructokinase causing benign fructosuria

Question 4

Fructose Intolerance

Answer 4

Deficiency of aldolase B, causing buildup of Fructose-1-phosphate using up phosphate causing severe hypoglycemia from lack of glycogenolysis and gluconeogenesis. Decrease intake of fructose and sucrose

Question 5

Galactokinase Deficiency

Answer 5

Galactitol accumulates, fairly mild but maybe infantile cataracts

Question 6

Classic Galactosemia

Answer 6

Absence of galactose-1-phosphate uridyltransferase. Causes severe galactitol accumulation and failure to thrive, ID, cataracts, etc. Exclude galactose and lactose from diet

Question 7

NADPH Oxidase Deficiency

Answer 7

Can’t make oxidiative burst in lysosome. Only free rad might have is H2O2 from environment, so get CHRONIC GRANULOMATOUS DISEASE from anything catalase (+)