Metabolism 97-100

Question 1

Glycogen storage disease

Answer 1

"Very Poor Carbohydrate Metabolism" 
Von Gierke (I)
Pompe (II)
Cori (III)
McArdle (V)

Question 2

Von Gierke disease

Answer 2

Enzyme: glucose 6 phosphatase
S/s: severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, increased TG’s, Gout
Tx: frequent oral glucose/cornstarch, avoid fructose and galactose

Question 3

Pompe Disease

Answer 3

Deficiency in lysosomal alpha 1,4 glucosidase with alpha 1,6 glucosidase activity
S/s cardiomegaly, exercise intolerance
“Pompe trashes the pump”
Type II

Question 4

Cori Disease

Answer 4

Type III
Enzyme: debranching enzyme: alpha 1,6 glucosidase
S/s: milder form of Von Gierke disease with NORMAL BLOOD LACTATE LEVELS, dextrin-like structures in cytosolic
Gluconeogenesis is intact

Question 5

McArdle Disease

Answer 5

type V–McArdle = muscle
Deficient enzyme: skeletal muscle glycogen phosphorylase (myophosphorylase)
S/s increased glycogen in muscle–>painful muscle cramps, myoglobinuria (red urine) with strenuous exercise, arrhythmias from electrolyte abnormalities, second wind phenomenon noted during exercise due to increased muscular blood flow
BLOOD GLUCOSE LEVELS UNAFFECTED

Question 6

Glycogen regulation by insulin and glucagon/epinephrine

Answer 6

Insulin: binds tyrosine kinase–> + glycogen synthase
Glucagon/epinephrine: increased cAMP –> cAMP–>PROTEIN KINASE A ACTIVATED –> + glycogen phosphorylase kinase: glycogen phosphorylase!

Question 7

Lysosomal Storage Dieases

Answer 7

Results in accumulation of abnormal metabolic products

1. Sphingolipidoses: Fabry, Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, Metachromatic leukodystrophy
2. Mucopolysaccharidoses: Hurler and Hunter syndrome

Question 8

Fabry Disease

Answer 8

Peripheral neuropathy, angiokeratomas, hypohidrosis
Late: renal failure, CV disease
Enzyme: alpha galactosidase A, accumulation of ceramics trihexoside
Inheritance XLINKED RECESSIVE (different from others!!!)
Fabry: “fairies” (guys-more likely to get it). Like doing ceramics, don’t sweat,

Question 9

Gaucher Disease

Answer 9

Most common
Hepatosplenomegaly, Pancytopenia, osteoporosis, aseptic necrosis of the femur, bone crises
Gaucher cells: lipid laden macrophages resembling crumpled tissue paper
Enzyme: glucocerebrosidase- beta glucosidase
Tx: recombinant glucocerebrosidase
Gaucher= “oucher” (bone crises) when trying to wrap presents (lipid laden macrophages)

Question 10

Niemann Pick Disease

Answer 10

Neurodegeneration, foam cells (lipid laiden macrophages), “cherry red” spot on macula
Enzyme: sphingomyelinase
Nieman: wicked witch: has red gleaming eyes, is melted down when criticized (neurodegenerated), into a foamy pool of sphingomyelin

Question 11

Tay Sachs disease

Answer 11

Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with "onion skin" 
NO HEPATOSPLENOMEGALY (Nieman was fat once, but Taylor swift is not) 
Enzyme: hexosaminidase A - accumulation of GM2 ganglioside 
Taylor swift: skinny (no hepatosplenomegaly), younger fans=developmental delay, red lipstick = red spot on macula, "put a hex on you" love songs

Question 12

Krabbe Disease

Answer 12

Peripheral neuropathy, developmental delay, OPTIC ATROPHY, globoid cells
Enzyme: galactocerebrosidase
Krabbe: constellation in the sky, hard to see since it is dark at night

Question 13

Metachromatic leukodystrophy

Answer 13

Central and peripheral demyelination with ataxia and dementia
Enzyme: arylsulfatase A-accumulation of cerebroside sulfate
Lephrechaun: rainbow in the “air”, can’t remember where the pot of gold is, walks with funny gait (ataxia)

Question 14

Hurler Syndrome vs. Hunter Syndrome

Answer 14

HURLER: Developmental delay, gargoylism, corneal clouding
Enzyme: alpha - L-iduronidase, accumulation of heparin sulfate and dermatan sulfate
HUNTER: same as HURLER, BUT
Enzyme: usurp are sulfa taste
AGGRESSIVE BEHAVIOR AND NO CORNEAL CLOUDING
XLINKED RECESSIVE
Hunters have to be able to see, be aggressive to shoot where the X marks the spot