Lysosome Storage Disorders

Question 1

General phenotype of LSD

Answer 1

Normal at birth then progressive neuro and motor degeneration. Then subdivided based on substrate that accumulates

Question 2

Example of lipid storage disorder

Answer 2

Gauchers, krebbe, Tay-Sachs

Question 3

Risk of heterozygous gauchers mutation

Answer 3

5 fold risk parkinsons

Question 4

BM morphology in gauchers

Answer 4

Lipid engorged macrophages

Question 5

What are 3 types of gauchers and which are increased in a.jew population

Answer 5

1. Bone -most common 1/855 a.jews 1/60,000 others.
2. Bone and neuro
3. Like 2 but more progressive.
   2+3 uncommon and not increased in A.jews

Question 6

How many lysosomal storage disorders

Answer 6

~70 combine freq 1/7500-8000

Question 7

Gene mutated in gauchers

Answer 7

GBA

Question 8

How test for gauchers

Answer 8

Biochemical assay and sequencing GBA gene

Question 9

Common gauchers mutation in A.jews

Answer 9

N370S in 70%

Question 10

Genes involved in niemann-pick

Answer 10

NCP1 (90%) or NCP2 (4%)

Question 11

Phenotype of niemann-pick

Answer 11

Present any age. In neonate have liver disease, classically in mid-late childhood with clumsy ataxic gait