Metabolism IV

Question 1

von gierke disease

Answer 1

glycogen storage disease - type I

deficient glucose 6 phosphatase

cannot break down glycogen
-severe fasting hypoglycemia

high glycogen in liver, high blood lactate, high TGs, high uric acid, hepatomegaly

auto recessive

Question 2

tx von gierke

Answer 2

frequent oral glucose and cornstarch

avoid fructose and galactose

Question 3

pompe disease

Answer 3

glycogen storage disease - type II

deficient lysosomal a-1,4 glucosidase

cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, early death

auto recessive

Question 4

cori disease

Answer 4

glycogen storage disease - type III

debranching enzyme - a-1,6 glucosidase deficiency

fasting hypoglycemia, high glycogen liver, hepatomegaly, normal blood lactate levels

auto recessive

Question 5

glycogen storage disease

Answer 5

all auto recessive

Question 6

mcardle disease

Answer 6

type IV glycogen storage disease

deficient skeletal muscle glycogen phosphorylase
-no breakdown of glycogen in muscle

painful muscle cramp, myoglobinuria with strenuous exercise, arrhythmias, electrolyte abnormalitites

autosomal recessive

Question 7

tx of mcardle disease

Answer 7

vit B6 - cofactor glycogen phosphorylase

Question 8

fabry disease

Answer 8

deficient a-galactosidase A

accumulation of ceramide trihexoside

X-linked recessive
-lysosomal storage disease

Question 9

deficient glucocerebrosidase

Answer 9

gaucher disease

Question 10

gaucher disease

Answer 10

MC lysosomal storate disease

deficient glucocerebrosidase
-accumulation of glucocerebroside

auto recessive

Question 11

deficient sphingomyelinase

Answer 11

nieman pick disease

Question 12

nieman pick disease

Answer 12

deficient sphingomyelinase

accumulation of sphingomyelin

lysosomal storage disease - auto recessive

Question 13

hepatosplenomegaly, foam cells, cherry red spot on macula, neurodegeneration

Answer 13

nieman pick

deficient sphingomyelin

Question 14

tay sachs disease

Answer 14

deficient hexosaminidase A

accumulation of GM2 ganglionside

lysosomal storage disease - auto recessive

Question 15

cherry red spot on macula, no hepatosplenomegaly, lysosomes with onion skin, neurodegeneration

Answer 15

tay sachs disease

Question 16

deficient hexosaminidase A

Answer 16

tay sachs disease

Question 17

deficient galactocerebrosidase

Answer 17

krabbe disease

accumulation of galactocerebroside and psychosine

Question 18

krabbe disease

Answer 18

deficient galactocerebroside

accumulation of galactocerebroside and psychosine

lysosomal storage disease, autosomal recessive

Question 19

deficient arylsulfatase A

Answer 19

metachromatic leukodystrophy

Question 20

metachromatic leukodystrophy

Answer 20

deficient arylsulfatase A
-accumulation of cerebroside sulfate

lysosomal storage disease - auto recessive

Question 21

hurler syndorme

Answer 21

gargoylism
develop delay
airway obstruction
hepatosplenomegaly
corneal clouding

deficient a-L iduronidase

accumulation of heparan sulfate and dermatan sulfate

auto recessive - lysosomal storage disease - mucopolysaccharidoses

Question 22

hunter syndrome

Answer 22

gargoylism, aggressive behavior
develop delay
no corneal clouding

deficient iduronate sulfatase

acuumulation of heparan sulfate and dermatan sulfate

X-linked recessive - lysosomal storage disease
mucopolysaccharidoses

Question 23

ashkenazi jew

Answer 23

tay sachs
niemann pick
gaucher disease

Question 24

citrate

Answer 24

for fatty acid synthesis

transferred from mitochondrial matrix to cytoplasm

Question 25

carnitine shuttle

Answer 25

for breakdown of fatty acids

shuttle long chain fatty acid to from cytoplasm to the mitochondrial matrix

Question 26

carnitine deficiency

Answer 26

defect transport long chain FAs - into mitochondria

toxic accumulation - weakness, hypotonia, hypoketotic, hypoglycemia

Question 27

medium chain acyl-CoA DH deficiency

Answer 27

auto rec

cannot breakdown FAs to acetyl CoA
-accumulation 8-10 carbon fatty acyl carnitines

hypoketotic hypoglycemia

infant - vomit, lethargy, seizure, coma, liver dysfxn

tx - avoid fasting

Question 28

ketone bodies

Answer 28

acetoacetate

B-hydroxybutyrate

Question 29

urine test for ketones

Answer 29

measure acetoacetate only

not B-hydroxybutyrate

Question 30

prolonged starvation

Answer 30

OAA depleted for gluconeogenesis

buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies

Question 31

diabetic ketoacidosis

Answer 31

OAA depleted for gluconeogenesis

buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies

Question 32

alcoholism

Answer 32

excess NADH - shunt OAA to malat

buildup of acetyl CoA - shunt glucose and FFA to production ketone bodies

Question 33

1 gram of protein

Answer 33

4 kcal energy

Question 34

1 gram of carbohydrate

Answer 34

4 kcal energy

Question 35

1 gram of fat

Answer 35

9 kcal energy

Question 36

1 gram of alcohol

Answer 36

7 kcal energy

Question 37

glycogen reserves

Answer 37

depleted after 1 day

Question 38

fasting - between meals

Answer 38

hepatic glycogenolysis -major

hepatic gluconeogenesis, adipose release of FFA - minor

Question 39

starvation - 1-3 days

Answer 39

blood glucose

• hepatic glycogenolysis, adipose release FFAs
• muscle and liver - use FFA

Question 40

hepatic gluconeogenesis

Answer 40

from lactate, alanine
and adipose tissue glycerl and prpionyl CoA

from odd-chain FFA
-only TG component for gluconeogenesis

Question 41

starvation after 3 days

Answer 41

ketone bodies -main energy for brain

after depleted - protein degradation occurs - organ failure and death

Question 42

RBCs

Answer 42

cannot utilize ketones