Metabolism 97-100 Flashcards
(14 cards)
Glycogen storage disease
"Very Poor Carbohydrate Metabolism" Von Gierke (I) Pompe (II) Cori (III) McArdle (V)
Von Gierke disease
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
Pompe Disease
Deficiency in lysosomal alpha 1,4 glucosidase with alpha 1,6 glucosidase activity
S/s cardiomegaly, exercise intolerance
“Pompe trashes the pump”
Type II
Cori Disease
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
McArdle Disease
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
Glycogen regulation by insulin and glucagon/epinephrine
Insulin: binds tyrosine kinase–> + glycogen synthase
Glucagon/epinephrine: increased cAMP –> cAMP–>PROTEIN KINASE A ACTIVATED –> + glycogen phosphorylase kinase: glycogen phosphorylase!
Lysosomal Storage Dieases
Results in accumulation of abnormal metabolic products
- Sphingolipidoses: Fabry, Gaucher, Niemann-Pick, Tay-Sachs, Krabbe, Metachromatic leukodystrophy
- Mucopolysaccharidoses: Hurler and Hunter syndrome
Fabry Disease
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,
Gaucher Disease
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)
Niemann Pick Disease
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
Tay Sachs disease
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
Krabbe Disease
Peripheral neuropathy, developmental delay, OPTIC ATROPHY, globoid cells
Enzyme: galactocerebrosidase
Krabbe: constellation in the sky, hard to see since it is dark at night
Metachromatic leukodystrophy
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)
Hurler Syndrome vs. Hunter Syndrome
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
