Lysosomal Storage Disorders

Question 1

Fabry inheritance

Answer 1

XLR

Question 2

Fabry gene

Answer 2

GLA

Question 3

Fabry enzyme deficiency

Answer 3

Alpha galactosidase

Question 4

Untreated symptoms of Fabry

Answer 4

Burning/painful episodes
Small red-purple spots on skin
Dyshydrosis
Ocular opacities
Renal failure
Cardiovascular
Cerebrovascular disease

Question 5

Treatment of Fabry (Preventative)

Answer 5

ERT

Question 6

Gaucher inheritance

Answer 6

AR

Question 7

Gaucher gene

Answer 7

GBA

Question 8

Gaucher enzyme deficiency

Answer 8

Glucocerebrosidase

Question 9

Type 1 Gaucher untreated features

Answer 9

Bone disease
HSM
Cytopenias
Pulmonary involvement
Parkinsons
No early neurodegeneration

Question 10

Gaucher Type 2/3 untreated features

Answer 10

FTT
Minimal development
HSM
Spasticity
Opisthotonus

Question 11

Preventative treatment Gaucher

Answer 11

ERT

BMT

Question 12

Symptomatic treatment Gaucher

Answer 12

Splenectomy
Transplantation
Pain meds/joint replacement

Question 13

Niemann Pick Disease inheritance

Answer 13

AR

Question 14

NPD gene

Answer 14

SMPD1

Question 15

NPD enzyme deficiency

Answer 15

Sphinomyelin phosphodiesterase

Question 16

Untreated Type A NPD

Answer 16

Neurodegeneration
HSM
Pulmonary involvement

Question 17

Untreated type B NPD

Answer 17

HSM
Pulmonary dysfunction
Abnormal lipids

Question 18

Preventative treatment NPD

Answer 18

BMT

ERT

Question 19

Treatment for symptomatic NPD

Answer 19

Platelet transfusion
Avoid splenectomy
Cholesterol lowering meds
Supplemental oxygen

Question 20

Tay sachs inheritance

Answer 20

AR

Question 21

Tay sachs gene

Answer 21

HEXA

Question 22

Tay sachs enzyme deficiency

Answer 22

Hexosaminidase

Question 23

Untreated tay sachs features

Answer 23

Neurodegeneration
No organomegaly
Cherry red spot

Question 24

Supportive treatment for tay sachs

Answer 24

Anti-epileptic meds
Respiratory support
Supplemental nutrition

Question 25

Krabbe disease inheritance

Answer 25

AR

Question 26

Krabbe disease gene

Answer 26

GALC

Question 27

Krabbe disease enzyme deficiency

Answer 27

Beta galactosidase

Question 28

Untreated Krabbe disease

Answer 28

Irritability, FTT, stop developing Neurodegeneration Blind, deaf, death

Question 29

Preventative treatment for Krabbe

Answer 29

HSCT | Possibly ERT

Question 30

MLD inheritance

Answer 30

AR

Question 31

MLD gene

Answer 31

ARSA

Question 32

MLD enzyme deficiency

Answer 32

arylsulfatase

Question 33

Untreated MLD

Answer 33

Weakness, falling, slurred speech, DD Neurodegeneration, seizures, optic atrophy Blindness, rigidity, death

Question 34

Preventative MLD treatment

Answer 34

HSCT/BMT