storage diseases of doommmmm

Question 1

Von gierke disease (type 1)

Answer 1

Deficient enzyme: glucose-6-phosphatase (removes phosphate to yield glucose)

• autosomal recessive
  findings: severe fasting hypogylcemia, increase glycogen in liver, increase blood lactate (cant make glucose so shift to lactic acid production), hepatomegaly

treatment:
frequent oral glucose/cornstarch avoidance of fructose and galactose

Question 2

Pompe disease type II

Answer 2

deficient enzyme:
lysosomal alpha 1,4-glucosidase also known as acid maltase (breaks down glycogen in lysosomes)

autosomal recessive

findings:
cardiomyopathy, liver, muscle damage, early death

Question 3

cori disease type III

Answer 3

deficient enzyme:
debranching enzyme alpha 1,6-glucosidase (the enzyme that clease the last g-1-p off a branch)

• autosomal recessive
• milder form of type 1 with normal blood lactate levels.
• glugoneogenesis intact

Question 4

McArdle disease type IV

Answer 4

-deficent enzyme:
skeletal muscle glycogen phosphorylase (myphophorylase) this is the muscle that cleaves G-1-P residuces off branched glycogen until 4 remain before a branch point.

-autosomal recessive

findings:
increased glycogen in muscle, but cannot break it down. leading to painful muscle cramps, myoglobinuria (red urine) with strenuous exercise, and arrhthmia from electrolyte abnormalities.

Question 5

Fabry disease a sphingolipidoses

Answer 5

Deficient enzyme: alpha galactosidase A
accumulated: ceramide trihexoside
X LINKED!

findings:
peripheral neurapathy of hands/feet, angiokeratomas, cardiovascular/renal disease

Question 6

Gaucher disease a sphingolipidoses

Answer 6

most common
deficient enzyme: Glucocerebrosidase (beta-glucosidase)
accumulated substrate - glucocerebroside
autosomal recessive

Findings:
hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, gaucher cells (lipid laded macropjages resemblind crumpled tissue paper)

treatment is recombinant glucocerebrosidase

Question 7

Niemann-pick disease a sphingolipidoses

Answer 7

Deficient enzyme: sphingomyelinase converts sphingomyelin to ceramide

• accumulate: sphingomyelin
• autosomal recessive

findings:
progressive neurodengernation, hepatospenomeagaly “cherry red spot on macula”, foam cells (lipid laded macrophages)

Question 8

Tay-sachs disease a sphingolipidoses

Answer 8

Deficient enzyme: hexosaminidase A which converts GM2 –> GM3 ganglioside

findings:
progressive neurodegeneration, developmental delay, “cherry red spot on macula
lysosomes with onion skin, no hepatosplenomegaly

Question 9

both nieman pick and tay sacks have cherry red spot on macula, whats one differing feature?

Answer 9

neimann pick has hepatosplenomegaly

Question 10

Krabbe disease

Answer 10

deficient enzyme: galactocerebroisidase which converts galactocerbroside to ceramide
build up: galactocerebroside and psychosine
autosomal recessive

findings:Peripheral neuropathy, developmental delay, optic atrophy, globiod cells

Question 11

metachromatic leukodystrophyq

Answer 11

deficient enzyme: arylsulfatase A which converts sulfatides to galactocerebroside
buildup: cerebroside sulfate
autosomal recessive

findings: central and peripheral demyelination with ataxia, dementia

Question 12

Hurler syndrome a mucopolysaccaridoses

Answer 12

deficent enzyme: alpha-L-iduronidase build up of heparin sulfate and dermatin sulfate
autosomal recessive

findings:
development delay, gargoylism, ariway obstruction, corneal clouding, hepatosplenomegaly

hurler for hurrifyyinng gargoyles

Question 13

Hunter syndrome

Answer 13

deficient enzyme: iduronate sulfatase
build up: heparin sulfate and dermatan sulfate
Hunter hunts with his axe for aXe Linked

findings: mild hurler + aggressive behavior, no corneal clouding

Question 14

differences between hunter and hurler?

Answer 14

hunter are more aggressive and have no corneal clouding