Lysosomal Storage Diseases

Question 1

All lysosomal diseases are autosomal recessive except which two?
What are they?

Answer 1

Fabry Disease
Hunters disease
Both X linked.

Question 2

Tay Sachs Disease is caused by a deficiency in what enzyme and a build up of what precursor?

Answer 2

Mutation in Hexosaminidase A leading to accumulation of GM2 gangliosides in neurons that baloon and die.

Question 3

What occurs in the infantile stage of Tay Sachs Disease?

Answer 3

Loss of motor skills
Cherry Red spot
Severe psychomotor damage
Death via bronchopneumonia at age 4.

Question 4

What occurs in the juvenile onset form of Tay Sachs Disease

Answer 4

Onset between 2 and 10 yrs

Dimentia progressing to death by age 10-15.

Question 5

What occurs in the adult onset form of Tay Sachs Disease?

Answer 5

Clumsiness in childhood and motor weakness in adolescence.

Question 6

What population is especially at risk for Tay Sachs disease?

Answer 6

Ashkenazi Jews

Question 7

What enzyme is deficient in Gauchers disease and what precursor is accumulated in the lysosomes?

Answer 7

Deficiency in Beta-Glucosidase resulting in an accumulation of glycosylceramide in the monocyte-macrophage system.
This is the most common lipid storage disease.

Question 8

The most common form of Gauchers Disease, displaying hepatosplenomegally, erlenmeyer flask deformities, and bone pain most prevelant amongs Ashkenazi Jews

Answer 8

Gauchers Type I

Question 9

Which type of Gauchers disease is rare and characterized by panethnic rapid neurodegenerative course leading to death in the first two years of life?

Answer 9

Type II

Question 10

Which type of Gauchers disease affects juvenile swedes most commonly causin neurological invovlement in addition to the common hepatosplenomegally and bone involvement?

Answer 10

Type III.

Question 11

Chitotriosidase, a macrophage enzyme is a biomarker for what disease?

Answer 11

Biomarker for Gauchers disease.

Question 12

Niemann- Pick disease is due to a defect in what enzyme and an accumulation of what?

Answer 12

Deficiency in sphingomyelinase resulting in lysosomal accumulation of sphingomyelin in phagocytes and neurons.

Question 13

This type of Niemann-Pick disease is fatal in infancy leading to psychomotor retardation, retinal cherry spot, hepatosplenomegally and lymphadenopathy at 6 months of life.

Answer 13

Type A

Ganglion cells in brain and spinal cord are foamy.

Question 14

This type of Nieman Pick disese has a later more variable onset with hepatosplenomegaly and eventual cirhosis with cor pulmone

Answer 14

Type B

Question 15

This type if Nieman Pick disease has an abnormal NPC-1 gene involved with and causing the build up of cholesterol.

Answer 15

Nieman Pick disease type C.

Question 16

Mucopolysaccharidoses is a deficiency in what enzymes and an accumulation of what precursor?

Answer 16

Deficiency in degradation of Glycosaminoglycans eading to there buildup.

Question 17

Valvular lesions and coronary artery narrowing are a common feature of what disorder?

Answer 17

Mucupolysaccharidoses

Founding of GAGs

Question 18

Hurlers Disease is caused b a deficiency of what enzyme and a build up of what product?

Answer 18

Deficiency in alpha-L-iduronidase resulting in accumulation of dermatan sulfate and heparan sulfate.

Question 19

Hunters sysdrome is the deficiency and buildup of what?

Answer 19

Deficiency of iduronosulfate sulfatase
Build up of sulfatase

with similar side effects of hurlers disease.