Lysosomal Storage Diseases

Question 1

Hurler’s Syndrome

Answer 1

Mucopolysaccharidosis

Question 2

Fabry disease

Answer 2

GLA; X-linked
Females aren’t carriers; they have the disorder
Males are more severe (can cause renal failure)
Buildup of globotriaosylceramide in cells
Burning in hands of feet, angiokeratomas, hypohidrosis, corneal opacity or streaks, GI issues, tinnitus, hearing loss, progressive kidney damage, heart attack, and stroke

Question 3

Hunter syndrome

Answer 3

mucopolysaccharidosis type II (MPS II)
X-linked
regular and attenuated forms, regression with both
claw-like hands with contractures, obesity, narrow airway, kyphosis, back abnormalities, coarse facial features, heart issues (thickened valves), DD, restricted growth, hearing loss

Question 4

Niemann Pick Disease Type C

Answer 4

NPC1, NPC2; AR

Question 5

Sandhoff Disease

Answer 5

• HEXB; AR (similar to Tay Sachs, which is HEXA)
• progressive neurodegeneration starting around 3 to 6 months
• also a rare late-onset form
• caused by buildup of lipids due to deficiency of the enzyme beta-hexosaminidase
• rare; more common in the Creoles of northern Argentina; Metis Indians in Saskatchewan; Lebanese