Biochem -HMP shunt and sugars

Question 1

Hexose monophosphate shunt (HMP)

Answer 1

Pentose phosphate pathway

Creates NADPH

Question 2

Uses of NADPH

Answer 2

Synthesis of FA and cholesterol
Generation of oxygen free radicals
RBC -> protect from oxygen free radicals
CYP450

Question 3

Formation of PRPP

Answer 3

G6P –G6PD –> 2 NADPH-ribulose-5-P -> PRPP

Question 4

Lactose deficiency

Answer 4

Lack lactase in brush border of intestine, can’t break down into glucose and galactose

Lactose passes into colon, bacteria consume producing gas (CO2 and methane)
-> bloating, cramping, flatulence, osmotic D

Tx: supplement lactase, avoid dairy products

Question 5

Draw out oxidative burst pathway

Answer 5

Page 546

Question 6

Draw out glutathione and G6PD cycle

Answer 6

Page 546

Question 7

Chronic granulomatous disease

Answer 7

Deficiency of NADPH oxidase

Susceptible to catalase + organisms

Question 8

G6PD deficiency

Answer 8

X linked recessive
-> hemolytic anemia – nonimmune

peripheral smear:
Heinz bodies – oxidized hemoglobin
Bite cells – M0 remove Heinz body

Question 9

Draw out fructose metabolism pathway

Answer 9

Page 547

Question 10

Essential fructosuria

Answer 10

Deficient fructokinase

Fructose builds up in blood, spills into urine

Benign

Question 11

Fructose intolerance

Answer 11

Aldose b-deficiency – can’t correct fasting hypoglycemia

Build up fructose 1-P

Use up phosphate
Inhibits glycogenolysis and gluconeogenesis

After eating fructose or sucrose causes hypoglycemia and vomiting

Hepatomegaly
Jaundice

Tx: decrease fructose and sucrose intake

Question 12

Draw galactose metabolism pathway

Answer 12

Page 547

Question 13

Classic galactosemia

Answer 13

Gal-1-uridyltransferase deficiency
Worse cataracts
Hepatomegaly, jaundice
Failure to thrive
Intellectual disability
Tx: exclude galactose and lactose from diet

Question 14

Galactokinase deficiency

Answer 14

Elevated galactitol – high in blood and urine

Cause infantile cataracts