Sphingolipidoses

Question 1

What is the inheritance pattern of all the sphingolipidoses with the exception of Fabrys?

Answer 1

AR or X linked recessive

Question 2

What is the inheritance pattern of Fabrys?

Answer 2

XLR

Question 3

Deficiency in Fabry disease?

Answer 3

α-galactosidase A

Question 4

Accumulated substrate in Fabry disease?

Answer 4

• ceramide trihexoside (globotriaosylceramide)

Question 5

Symptoms of Fabry disease?

Answer 5

• angiokeratomas
• peripheral neuropathy
• glomerulopathy

Question 6

What is the deficiency in Tay-Sachs disease?

Answer 6

β-hexominidase A

Question 7

Definition of sphingolipidoses?

Answer 7

metabolic storage disorders characterized by accumulation of harmful quantities of glycosphingolipids and phosphosphingolipids …. (lipids)

Question 8

What is the accumulated substrate in Tay-Sachs disease?

Answer 8

GM2 (ganglioside)

Question 9

Symptoms of Tay Sachs?

Answer 9

• macular cherry-red spot
• progressive neurodegeneration

Question 10

What is the deficiency in Gaucher disease?

Answer 10

β - glucocerebrosidase

Question 11

What is the accumulated substrate in Gaucher disease?

Answer 11

glucocerebroside

Question 12

What are key features of Gaucher disease?

Answer 12

• hepatosplenomegaly
• pancytopenia
• bone pain/osteopenia

Question 13

What is the deficiency found in Niemann-Pick disease?

Answer 13

Shingomyelinase

Question 14

What is the accumulated substrate in Niemann-Pick disease?

Answer 14

Sphingomyelin

Question 15

What are key features of Niemann-Pick disease?

Answer 15

• macular cherry- red spot
• progressive neurodegeneration
• hepatosplenomegaly

Question 16

What is the deficiency found in Krabbe disease?

Answer 16

galactocerebrosidease deficiency

Question 17

What is the accumulated substrate in Krabbe disease?

Answer 17

galactocerebroside psychosine

Question 18

What are key features of Krabbe disease?

Answer 18

• progressive neurodegeneration
• peripheral neuropathy
• optic atrophy

Question 19

What is the deficient enzyme in metachromatic leukodystorphy?

Answer 19

arylsufatase A

Question 20

What is the accumulated substrate in metachromatic leukodystrophy?

Answer 20

cerebroside sulfate

Question 21

What are the symptoms of metachromatic leukodystrophy?

Answer 21

• progresive neurodegeneration
• peripheral neuropathy

Question 22

Hurler Syndrome deficient enzyme?

Answer 22

alpha L iduronidase

Question 23

Accumulated substrate of alpha L iduronidase?

Answer 23

dermatan & heparin sulfate

Question 24

Symptoms of Hurler syndrome? (death usually caused by cardiac complications)

Answer 24

• severe developmental delay & intellectual disability
• coarse facial features
• corneal clouding
• hepatosplenomegaly
• death at age < 10 (cardiac complications)

Question 25

What is the inheritance pattern of Hunter syndrome?

Answer 25

XLR

Question 26

What is the deficient enzyme in Hunter syndrome?

Answer 26

idruonate sulfatase

Question 27

What are some key features of Hunter syndrome?

Answer 27

• milder features than Hurler:
• (+) aggressive behavior
• (-) corneal clouding
• death in adolescence/ early adulthood

Question 28

What is mucopolysaccharidoses?

Answer 28

lysosomal storage disorders resulting from defective metabolism of glycosaminoglycans (GAGs)

Question 29

What are GAGs?

Answer 29

long unbranched polysaccharides that are an important component of ground substance within the extracellular matrix of connective tissues