LIPID ACCUMULATION DISORDERS

Question 1

Metachromatic leukodystrophy

Answer 1

Question 2

• α-L-Iduronidase DEFICIENCY
• affects Dermatan sulfate and Heparan sulfate

Answer 2

Hurler Syndrome - MPS- I

• Mental retardation
• Coarse facial features
• Hepatosplenomegaly
• Corneal clouding
• Death in childhood

Question 3

GAG present in the Skin, synovial fluid, bone, cartilage, vitreous humor, embryonic tissues

Answer 3

Hyaluronic acid

Question 4

Sanfilippo Syndrome

(MPS-III)

Answer 4

Question 5

ALL mucopolysaccharidoses are autosomal recessive except

Answer 5

Hunter Syndrome (X-linked recessive)

Question 6

Morquio Sendrome (MPS IV)

Answer 6

Question 7

Gaucher disease

Answer 7

Question 8

Niemann-Pick disease

Answer 8

Question 9

All mucopolysaccharidoses have mental retardation except

Answer 9

Morquio Syndrome

Question 10

Hunter is similar to Hurler, except

Answer 10

Hunter has no corneal clouding (Mnemonic: Hunter needs sharp vision to target X)

Question 11

All sphingolipidoses are autosomal recessive except

Answer 11

Fabry disease (X-linked recessive)

Question 12

Sly Syndrome

MPS-VII

Answer 12

Question 13

GAG present in the skin

Answer 13

Dermatan sulfate

Question 14

GAG present in Cornea, cartilage, loose connective tissue

Answer 14

Keratan sulfate

Question 15

GAG present inSkin, kidney basement membrane

Answer 15

Heparan sulfate

Question 16

MUCOPOLYSACCHARIDOSES

Answer 16

• Hurler Syndrome - MPS
• Hunter Syndrome - MPS-II
• Sanfilippo Syndrome - MPS-III
• Morquio Syndrome - MPS-IV
• Sly Syndrome - MPS-VII

Question 17

GAG present in Cartilage, bone, CNS

Answer 17

Chondroitin sulfate

Question 18

Sphingolipidoses

* Lipid synthesis is normal but lipid degradation in lysosomes is abnormal. Enzyme deficiency causes complex lipid to accumulate in cells. Lipid storage diseases often manifested in childhoo

Answer 18

• Tay-Sachs disease
• Niemann-Pick disease
• Gaucher disease
• Fabry disease
• Metachromatic leukodystrophy
• Krabbe disease
• Farber disease

Question 19

Farber disease

Answer 19

Question 20

foam cells from accumulation of sphingomyelin is seen in what disease?

Answer 20

Niemann-Pick disease

Question 21

Tay-Sachs disease

Answer 21

Question 22

• Mannose residue of oligosaccharide is not phosphorylated, hence, the glycoprotein does not reach the lysosome where it is supposed to be degraded
• Large inclusion bodies in cells
• Clinical Presentation:
  
  • Skeletal abnormalities, restricted joint movement, coarse facial features, severe psychomotor impairment

Answer 22

I-CELL DISEASE

Question 23

Demyelinating disease in which there is loss of both phospholipids and sphingolipids from white matter, with resulting ↓ CSF phospholipids

Answer 23

MULTIPLE SCLEROSIS

• Episodes of neurologic dysfunction, with attacks separated by periods of partial or complete remission
• May present with sensory symptoms, motor weakness, autonomic dysfunction, eye symptoms, depression, or other neurologic deficits that reflect primary CNS involvement

Question 24

Galactose is present on the surface of RBC in what blood type?

Answer 24

Type B

Question 25

Most common lysosomal storage disease

Answer 25

Gaucher disease

Question 26

macrophages that resemble crumpled tissue paper is seen in what disease?

Answer 26

Gaucher Disease

Question 27

GAG present in Mast cells, liver, lung, skin

Answer 27

Heparin

Question 28

Krabbe disease

Answer 28

Question 29

• Iduronate sulfatase deficiency
• affects Dermatan sulfate and Heparan sulfate

Answer 29

Hunter Syndrome: MPS-II

• Mental retardation
• Similar to Hurler, but no corneal clouding and is X-linked

Question 30

Fabry disease

Answer 30

Question 31

N-acetylgalactosamine is present on the surfaceof RBCs in what Blood type?

Answer 31

Type A