Glycogen storage and lysosomal disorders

Question 1

Von gierke disease (type 1)

Answer 1

Glycogen storage disease.

findings: severe fasting hypoglycemia. Increased glycogen in liver. Increased blood lactate, hepatomegaly.
enzyme: glucose 6 phosphatase (glucose 6P–> glucose)

Question 2

Pompe disease (type II)

Answer 2

glycogen storage disease.
cardiomyopathy, early death
lysosomal alpha 1,4-glucosidase (acid maltase) (normally degrades glycogen in lysosomes)

Question 3

Cori disease (type III)

Answer 3

glycogen storage disease
milder form of von gierke (fasting hypoglycemia, increased glycogen in liver), but normal lactate levels
Debranching enzyme (alpha 1,6-glucosidase) - cleaves off last glucose-1-P from the branch

Question 4

McArdle disease (type V)

Answer 4

glycogen storage disease.
increased glycogen in muscle (unable to break it down) - painful muscle cramps, myoglobinuria (red urine)
enzyme = skeletal muscle glycogen phosphorylase

Question 5

Fabry disease

Answer 5

Lysosomal storage disease
alpha-galactosidase A deficiency leading to accumulation of ceramide trihexoside.
X linked
peripheral neuropathy of hands/feet, angiokeratomas, CV and renal disease

Question 6

Gaucher disease

Answer 6

lysosomal storage disease
glucocerebrosidease (beta-glucosidase) deficiency leading to accumulation of glucocerebroside.
hepatosplenomegaly, pancytopenia, aseptic necrosis of femur, bone crises, gaucher cells (lipid macrophages resembling crumpled tissue paper)

Question 7

Niemann-Pick disease

Answer 7

Lysosomal storage disease
deficiency in sphingomyelinase leading to accumulation in sphingomyelin.
Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells (lipid macrophages)

Question 8

Tay-sachs disease

Answer 8

lysosomal storage disease.
deficiency in hexosaminidase A leading to accumulation of GM2 galactosidase.
Progressive neurodegen (eventual blindness and motor incoordination/flaccidity), cherry red spot, developmental delay, lysosomes with onion skin (no hepatosplen like niemann pick)
fatal by 2-3 yrs

Question 9

Krabbe disease

Answer 9

lysosomal disease
deficiency in galactocerbrosidase leading to accum of galactocerebroside, psychosine
peripheral neuropathy, devo delay, optic atrophy, globoid cells

Question 10

metachromatic leukodystrophy

Answer 10

lysosomal disease
deficiency in arylsulfatase A leading to accum in cerebroside sulfate
central and peripheral demyelination with ataxia, dementia. HISTO- metochromasia (change from crystal violet to brown staining)

Question 11

hurler syndrome

Answer 11

lysosomal storage disease (mucopolysaccharidoses)
deficiency in alpha-L-iduronidase leading to accum in heparan sulface and dermatan sulfate.
Devo delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly

Question 12

hunter syndrome

Answer 12

lysosomal storage disease (mucopolysaccaridoses)
deficiency in iduronate sulfatase leading to accum in heparain sulfate, dermatan sulfate
x linked
mild hurler with out corneal clouding (devo delay, gargoylism, airway obsturction hepatosplenomegaly) + aggressive behavior.

Question 13

Which lysosomal diseases cause eye problems

Answer 13

Niemann pick
tay sachs
krabbe disease
Hurler syndrome

Question 14

which lysosomeal diseases have increased incidence in Ashkenazi jews

Answer 14

Tay sachs
niemman pick
guacher disease

Question 15

All lysosomal and glycogen diseases are autosomal recessive except for which two? what type of inheritance are they?

Answer 15

Fabry disease
Hunter syndrome
X-linked recessive