LIPID ACCUMULATION DISORDERS Flashcards
Metachromatic leukodystrophy
- 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
GAG present in the Skin, synovial fluid, bone, cartilage, vitreous humor, embryonic tissues
Hyaluronic acid
Sanfilippo Syndrome
(MPS-III)
ALL mucopolysaccharidoses are autosomal recessive except
Hunter Syndrome (X-linked recessive)
Morquio Sendrome (MPS IV)
Gaucher disease
Niemann-Pick disease
All mucopolysaccharidoses have mental retardation except
Morquio Syndrome
Hunter is similar to Hurler, except
Hunter has no corneal clouding (Mnemonic: Hunter needs sharp vision to target X)
All sphingolipidoses are autosomal recessive except
Fabry disease (X-linked recessive)
Sly Syndrome
MPS-VII
GAG present in the skin
Dermatan sulfate
GAG present in Cornea, cartilage, loose connective tissue
Keratan sulfate
GAG present inSkin, kidney basement membrane
Heparan sulfate
MUCOPOLYSACCHARIDOSES
- Hurler Syndrome - MPS
- Hunter Syndrome - MPS-II
- Sanfilippo Syndrome - MPS-III
- Morquio Syndrome - MPS-IV
- Sly Syndrome - MPS-VII
GAG present in Cartilage, bone, CNS
Chondroitin sulfate
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
Farber disease
foam cells from accumulation of sphingomyelin is seen in what disease?
Niemann-Pick disease
Tay-Sachs disease
- 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
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
Galactose is present on the surface of RBC in what blood type?
Type B
Most common lysosomal storage disease
Gaucher disease
macrophages that resemble crumpled tissue paper is seen in what disease?
Gaucher Disease
GAG present in Mast cells, liver, lung, skin
Heparin
Krabbe disease
- 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
Fabry disease
N-acetylgalactosamine is present on the surfaceof RBCs in what Blood type?
Type A
