Lysosomal Storage Diseases

Question 1

Peripheral Neuropathy
Angiokeratomas
Hypohidrosis 
Renal Failure
Cardiovascular Disease

Answer 1

Fabry Disease

Deficient Enzyme: Alpha-Galactosidase A

Accumulated Substrate: Ceramide Trihexoside

Inheritance: XR

Question 2

Hepatosplenomegaly 
Pancytopenia 
Osteroporosis 
Aseptic necrosis of femur
Bone crisis 
Lipid-laden macrophages resembling crumpled tissue paper

Answer 2

Gaucher Disease

Deficient Enzyme: Glucocerebrosidase (Beta-Glucosidase)

Accumulated Substrate: Glucocerebrosidase

Inheritance: AR

Question 3

Progressive Neurodegeneration
Hepatosplenomegaly
Lipid-laden macrophages
Cherry-red Spot on Macula

Answer 3

Niemann-Pick Disease

Deficient Enzyme: Sphingomyelinase

Accumulated Substrate: Sphingomyelin

Inheritance: AR

Question 4

Progressive Neurodegeneration 
Developmental Delay 
Cherry-red Spot on Macula
Lysosomes with Onion Skin 
NO Hepatosplenomegaly

Answer 4

Tay-Sachs Disease

Deficient Enzyme: Hexosaminidase A

Accumulated Substrate: GM2 Ganglioside

Inheritance: AR

Question 5

Peripheral Nephropathy
Developmental Delay
Optic Atrophy
Globoid Cells

Answer 5

Krabbe Disease

Deficient Enzyme: Galactocerebrosidase

Accumulated Substrate: Galactocerebroside and Psychosine

Inheritance: AR

Question 6

Central and peripheral demyelination with Ataxia

Dementia

Answer 6

Metachromatic Leukodystrophy

Deficient Enzyme: Arylsulfatase A

Accumulated Substrate: Cerebroside Sulfate

Inheritance: AR

Question 7

Developmental Delay
Gargoylism 
Airway Obstruction 
Corneal Clouding 
Hepatosplenomegaly

Answer 7

Hurler Syndrome

Deficient Enzyme: Alpha-L-Iduronidase

Accumulated Substrate: Heparan Sulfate, Dermatan Sulfate

Inheritance: AR

Question 8

Mild Hurler
Aggressive Behavior
NO Corneal Clouding

Answer 8

Hunter Syndrome

Deficient Enzyme: Iduronate Sulfatase

Accumulated Substrate: Heparan Sulfate, Dermatan Sulfate

Inheritance: XR