LYSOSOMAL STORAGE DISEASES-SPHINGOLIPIDOSES

Question 1

Accompanied by

Answer 1

hepatomegaly and splenomegaly

Question 2

aka GM2 Gangliosidase or Hexosaminidase α subunit deficiency

Deficiency in

Answer 2

Tay-Sach’s Disease

hexosaminidase A (on chromosome 15)

Question 3

deficiency of hexosaminidase B (on chromosome 5)

Answer 3

Sandhoff Disease

Question 4

deficiency in sphingomyelinase and accumulation of sphinogmyelin

Answer 4

Niemann Pick Disease

Question 5

infantile, severe, death

○ The infantile form
○ Has severe neurologic involvement and
marked visceral accumulations
○ Death occurs w/in first 3 years of life

Niemann Pick Disease type

Answer 5

Niemann Pick Disease, Type A

Question 6

survivable, no CNS

○ Organomegaly but w/o CNS involvement

Niemann Pick Disease type

Answer 6

Niemann Pick Disease, Type B

Question 7

a totally different defect; deals w/ cholesterol accumulation

○ Defect in intracellular esterification of cholesterol

Niemann Pick Disease type

Answer 7

Niemann-Pick, Type C

Question 8

most common lysosomal storage disorder

Defect in glucocerebrosidase, causing glucocerebroside accumulation

Answer 8

Gaucher Disease

Question 9

Gaucher Disease type

chronic, non-neuropathic

○ most common form (99%)
○ Presents in adulthood
○ Splenic and Skeletal involvement (Erlenmeyer Flask deformity) leading to:
▪ Pathologic fractures
▪ Massive splenomegaly – pancytopenia or thrombocytopenia
○ Have a somewhat shortened lifespan

Answer 9

Type I

Question 10

Gaucher Disease type

infantile, neuropathic

o Absolutely no glucocerebroside activity
o Progressive CNS involvement w/ death at an early age

Answer 10

Type II

Question 11

Gaucher Disease type

juvenile, neuropathic

o Intermediate between type I and II
o Progressive CNS involvement

Answer 11

Type III