Biochem diseases

Question 1

what problems does alcohol toxicity cause

Answer 1

inc NADH/NAD+:
lactic acidosis
fasting hypoglycemia
hepatosteatosis
ketoacidosis

Question 2

arsenic blocks

Answer 2

lipoic acid - involved in pyruvate dehydrogenase and akg dehydrogenase

Question 3

symptoms of pyruvate dehydrogenase deficiency

Answer 3

inc alanine

lactic acidosis

Question 4

treatment for PD deficiency

Answer 4

only ketogenic aminoacids - lysine and leucine

Question 5

symptoms of methylmalonic acidemia

Answer 5

anion gap acidosis
ketosis
hypoglycemia

Question 6

electron chain inhibitors

Answer 6

rotenone
cyanide
CO
antimycin A

Question 7

what blocks ATP synthase directly

Answer 7

oligomycin

Question 8

name some uncoupling agents

Answer 8

2,4 dinitrophenol
aspirin
thermogenin

Question 9

what is deficient when someone has benign fructose in their blood and urine

Answer 9

fuctokinase

Question 10

baby develops hypoglycemia, jaundice and vomiting after eating fruit for the first time

Answer 10

fructose intolerance

aldolase B deficient

Question 11

treatment for aldolase B deficiency

Answer 11

dec fructose and sucrose in diet

Question 12

galactose kinase deficiency symptoms

Answer 12

cataracts - no social smile, cant track objects

build up of galactitol

Question 13

what is deficient in classic galactosemia

Answer 13

GIP UT

Question 14

what infection are babies with G1P UT prone to

Answer 14

ecoli sepsis

Question 15

treatment for G1P UT deficiency

Answer 15

decrease galactose and lactose

Question 16

symptoms of arginase deficiency

Answer 16

spasticity similar to cerebral palsy

Question 17

treatment for hyperammonemia

Answer 17

lactulose
rifaximin
benzoate
phenylbutyrate

Question 18

symptoms of n acetyl glutamate synthase deficiency

Answer 18

hyperammonemia

poor respiration, temperature control, feeding

Question 19

OTC deficiency symptoms

Answer 19

increased orotic acid
decreased BUN
hyperammonemia

Question 20

how does OTC deficiency differ from orotic aciduria

Answer 20

no megaloblastic anemia

Question 21

treatment for both types of PKU

Answer 21

increase tyrosine and BH4

decrease phenylalanine

Question 22

maple syrup urine disease what is deficient

Answer 22

alpha ketoacid dehydrogenase

Question 23

what is the treatment for maple syrup urine disease

Answer 23

decrease isoleucine, leucine, valine

increase thiamine

Question 24

what is deficient in alkaptonuria

Answer 24

homogentisate oxidase

Question 25

treatment for cystathione synthase deficient homocystinuria

Answer 25

decrease methionine

increase cysteine, B12, folate

Question 26

treatment for homocysteine methyltransferase deficient homocystinuria

Answer 26

increase methionine

Question 27

how do you treat cystinuria

Answer 27

alkalinization of the urine with citrate or acetazolamide

Question 28

two causes of hypoketotic hypoglycemia

Answer 28

carnitine deficiency

MCAD deficiency

Question 29

what is deficient in hyperchylomicronemia

Answer 29

lipoprotein lipase or CII

Question 30

what is the issue in hypertriglyceridemia

Answer 30

increase VLDL production
acute pancreatitis

associated with TG deficiency

Question 31

what does homogentisate oxidase normally convert

Answer 31

tyrosine to fumarate