Lab 1: Intracellular Accumulations

Question 1

Which is type I GSD?

Answer 1

Von Gierke’s

Question 2

Findings in Von Gierke’s

Answer 2

Severe fasting hypoglycemia
High glycogen in liver 
High blood lactate 
Hepatomegaly 
Hypercholesteremia

Question 3

Deficient enzyme in Von Gierke’s

Answer 3

Glucose-6-Phosphatase

Question 4

Which is type II GSD?

Answer 4

Pompe’s

Question 5

Findings in Pompe’s

Answer 5

Cardiomegaly
Systemic findings
Early Death

Question 6

Deficient enzyme in Pompe’s

Answer 6

Lysosomal-alpha-1,4-glucosidase

Question 7

Which is type III GSD?

Answer 7

Cori’s

Question 8

Findings in Cori’s

Answer 8

Mild

Normal blood lactate

Question 9

Deficient enzyme in Cori’s

Answer 9

Debranching enzyme

Question 10

Which is type V GSD?

Answer 10

McArdle’s

Question 11

Findings in McArdle’s

Answer 11

High glycogen in muscle
Painful muscle cramps
Myoglobinuria w/extreme exercise

Question 12

Deficient enzyme in McArdle’s

Answer 12

Skeletal muscle glycogen phosphorylase

Question 13

What are the two common mucopolysaccharidoses?

Answer 13

Hurler syndrome

Hunter syndrome

Question 14

What is the deficient enzyme in Hurler Syndrome?

Answer 14

alpha-L-iduronidase

Question 15

What is the deficient enzyme in Hunter syndrome?

Answer 15

Iduronate sulfatase

Question 16

What is the clinical presentation of hurler syndrome?

Answer 16

Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Question 17

What inheritance patterns do Hunter and Hurler syndromes show?

Answer 17

Hunter - XR

Hurler - AR

Question 18

Which is more severe: Hunter or Hurler Syndrome?

Answer 18

Hurler

Question 19

What are the two major categories of lysosomal storage diseases?

Answer 19

Sphingolipidoses

Mucopolysaccharidoses

Question 20

Do GSD or MPS have stronger PAS stains?

Answer 20

GSD

Question 21

Which of the GSD disorders has hypoglycemia?

Answer 21

Von Gierke’s

Question 22

Which will have systemic impact v. localized impact?

Answer 22

MPS - multi-systemic

GSD - localized to liver and muscles

Question 23

In alcohol fatty liver disease: macrovesicular steatosis or microvesicular steatosis?

Answer 23

macrovesicular steatosis

Question 24

What are the three ways that alcohol can cause steatosis?

Answer 24

1. shunting away from catabolism into lipid biosynthesis through increased NADH:NAD ratio
2. impairs assembly and secretion of lipoproteins
3. causes increased peripheral breakdown of fat (lipolysis) –> increased return to liver.

Question 25

What are Mallory-Denk bodies precipitates of?

Answer 25

damaged keratin intermediate filaments, found in cytoplasm of hepatocytes in alcoholic liver disease

Question 26

Three characteristics of clinical cirrhosis

Answer 26

1. portal hypertension 2. decreased detoxification 3. decreased protein synthesis

Question 27

Elevated liver function enzymes after drug therapy: micro or macro steatosis

Answer 27

microsteatosis

Question 28

Two ways to get microvasicular steatosis

Answer 28

toxicity (drugs) or immune response (bugs)

Question 29

Why do you get hepatic injury with drugs?

Answer 29

liver detoxifies and excretes many chemical drugs. during conjugation, reactive oxygen species may be produced that can injure the hepatocytes.

Question 30

Most liver disease AST and ALT values

Answer 30

AST < ALT

Question 31

Alcoholic hepatitis

Answer 31

AST > ALT

Question 32

High values in Wilson's disease

Answer 32

``` Ammonia Prothrombin time Partial thromboplastin time Creatinine Urea ```

Question 33

What are the clinical manifestations of elevated ammonia?

Answer 33

Decreased mental status | asterixis

Question 34

What gene is defective in Wilson's disease?

Answer 34

AR defect in ATP7B - which directs copper to transporter or to bile, deficiency causes back-up

Question 35

Kayser-Fleisher rings are caused by:

Answer 35

Wilson's disease (copper)

Question 36

Which two diseases are Mallory bodies present?

Answer 36

Wilson's and EtOH

Question 37

DDX for Cirrhosis

Answer 37

Alcoholic cirrhosis, hemochromatosis, Wilson's disease, chronic viral hepatitis and non-alcoholic steatohepatitis.

Question 38

What is Budd Chiari-Syndrome

Answer 38

Hepatic vein thrombosis

Question 39

What substance is stained by the Prussian blue stain?

Answer 39

Iron

Question 40

Hemochromatosis results from:

Answer 40

Too much iron in the body

Question 41

Hemochromatosis is a defect in what enzyme:

Answer 41

AR defect in HFE gene on chromosome 6

Question 42

What is the best lab test for hemochromatosis?

Answer 42

elevated ferritin levels

Question 43

What is the triad of bronze diabetes?

Answer 43

Cirrhosis, diabetes mellitus, bronze skin

Question 44

What blocks the transport of Iron?

Answer 44

Hepcidin turns off ferroportin (Hemochromatosis, this is defective)

Question 45

Where is Iron absorbed?

Answer 45

Duodenum