LIPID ACCUMULATION DISORDERS Flashcards Preview

#‼️BIOCHEMISTRY - PLE TOPNOTCH 2020 > LIPID ACCUMULATION DISORDERS > Flashcards

Flashcards in LIPID ACCUMULATION DISORDERS Deck (31)
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1

Metachromatic leukodystrophy

2

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

Hurler Syndrome - MPS- I

  • Mental retardation

  • Coarse facial features

  • Hepatosplenomegaly

  • Corneal clouding

  • Death in childhood

3

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

Hyaluronic acid

4

Sanfilippo Syndrome

(MPS-III)

5

ALL mucopolysaccharidoses are autosomal recessive except

Hunter Syndrome (X-linked recessive)

6

Morquio Sendrome (MPS IV)

7

Gaucher disease

8

Niemann-Pick disease

9

All mucopolysaccharidoses have mental retardation except

Morquio Syndrome

10

Hunter is similar to Hurler, except

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

11

All sphingolipidoses are autosomal recessive except

Fabry disease (X-linked recessive)

12

Sly Syndrome

MPS-VII

13

GAG present in the skin 

Dermatan sulfate

14

GAG present in Cornea, cartilage, loose connective tissue

Keratan sulfate

15

GAG present inSkin, kidney basement membrane

Heparan sulfate

16

MUCOPOLYSACCHARIDOSES

  • Hurler Syndrome - MPS

  • Hunter Syndrome - MPS-II

  • Sanfilippo Syndrome - MPS-III

  • Morquio Syndrome - MPS-IV

  • Sly Syndrome - MPS-VII

17

GAG present in Cartilage, bone, CNS

Chondroitin sulfate

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

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

19

Farber disease

20

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

Niemann-Pick disease

21

Tay-Sachs disease 

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

I-CELL DISEASE

23

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

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

24

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

Type B

25

Most common lysosomal storage disease

Gaucher disease

26

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

Gaucher Disease

27

GAG present in Mast cells, liver, lung, skin

Heparin 

28

Krabbe disease

29

  • Iduronate sulfatase deficiency
  • affects  Dermatan sulfate and Heparan sulfate

Hunter Syndrome: MPS-II

• Mental retardation

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

30

Fabry disease