Lipid accumulation disorders

Question 1

[Diagnose]

Mental retardation, Coarse facial features, hepatosplenomegaly, Corneal clouding, death in childhood

Answer 1

Hurler Syndrome

MPS I

Dermatan Sulfate
Heparan sulfate

Question 2

[Diagnose]

mental retardation
coarse facial features
hepatosplenomegaly
no corneal clouding
x-linked

Answer 2

Hunter Syndrome

MPS II

Dermatan and heparan sulfate

Question 3

[Diagnose]

skeletal dysplasia
short stature
Odontoid hyperplasia
corneal clouding
NO mental retardation

Answer 3

Morquio Syndrome

MPS IV

A: galactose 6 sulfatase
B: beta galactosidase

Question 4

[Diagnose]

mental retardation
Corneal clouding
hepatosplenomegaly
Skeletal dysplasia

Answer 4

Sly Syndrome

MPS VII

beta-glucoronidase

Question 5

[Diagnose]

Mental retardation
Cherry red spot on macula
NO hepatosplenomegaly
Ashkenazi jews

Answer 5

Tay-Sachs Disease

Accumulation of GM 2 Ganglioside

Question 6

[Diagnose]

Mental retardation
cherry red spot on macula
Hepatosplenomegaly

Answer 6

Nieman-Pick disease

Accumulation of sphingomyelin

Question 7

Most common lysosomal storage disorder

Answer 7

Gaucher

Question 8

[Diagnose]

Mental retardation
Erosion of long bones
Hepatosplenomegaly
macrophage looks like cumpled tissue paper

Answer 8

gaucher disease

Accumulaiton of glucosulceramide

Question 9

[Diagnose]

Reddish purple skin rash

kidney failure
heart failure
seen in males

Answer 9

Fabry disease

Accumulation of globotriaosylceramide

Question 10

[Diagnose]

muscle weakness
feeding difficulties
vision loss
seizure
mental retardation

Answer 10

Krabbe Disease

Galactosylceramide accumuation

Question 11

[Diagnose]

Tissue granulomas
Subcutaneous nodules
Hoarse cry
Mental retardation

Answer 11

Farber disease

ceramide accumulation

Question 12

[Composition of GAG]

Synovial fluid

Answer 12

Hyaluronic acid

Question 13

[Composition of GAG]

cartilage

Answer 13

chondroitin sulfate

Question 14

[Composition of GAG]

cornea

Answer 14

Keratan sulfate

Corneatan Sulfate

Question 15

[Composition of GAG]

mast cells

Answer 15

heparin

Question 16

[Composition of GAG]

kidney

Answer 16

heparan sulfate

Question 17

[Composition of GAG]

skin

Answer 17

dermatan sulfate

Question 18

[Diagnose]

skeletal abnormalities
restricted joint movement
coarse facial features
severe psychomotor impairment

presence of large inclusion bodies in cells

Answer 18

I-cell disease

mannose residue of oligosaccharide is not phosphorylated

Question 19

In HIV what is the attachment protein

Answer 19

gp120

Question 20

in HIV what is the fusion protein

Answer 20

gp41

Question 21

[Diagnose: Sphingolipids + glycolipids]

Episodic neurologic dysfunction, with partial or complete remission

sensory symptoms, motor weakness, autonomic dysfunction, eye symptoms, depression

Answer 21

Multiple sclerosis

Question 22

What oligosaccharide determine the nature of ABO substances?

Answer 22

glycosphingolipids

Question 23

Blood type A has a glycosphingolipid made of

Answer 23

Type A: N-acetylgalactosamine

Question 24

Blood type B has a glycosphingolipid made of

Answer 24

Type B: galactose

Question 25

[Clinical Correlates: Eicosanoid]

irreversible inhibitor of COX

Answer 25

Aspirin

Question 26

[Clinical Correlates: Eicosanoid]

inhibit phospholipase A2

Answer 26

steroids

Question 27

[Clinical Correlates: Eicosanoid]

reversible inhibitor of COX

Answer 27

NSAIDs

Question 28

[Clinical Correlates: Eicosanoid]

selective COX2 inhibitor

Answer 28

Celecoxib

Etoricoxib

Question 29

[Clinical Correlates: Eicosanoid]

NSAID used to close PDA

Answer 29

Indomethacin

Question 30

[Clinical Correlates: Eicosanoid]

competitive inhibitor of lipooxygenase

Answer 30

Zilueton

Question 31

[Clinical Correlates: Eicosanoid]

competitive receptor antagonist of leukotriene receptor

Answer 31

Zafirlukas, Monteukast