16 - SPECIAL TOPICS

Hyaluronic acid

Only glycosaminoglycan that does NOT covalently attach to protein to form proteoglycan

Chondroitin sulfate

Most abundant glycosaminoglycan in the body

Keratan sulfate

Most heterogeneous glycosaminoglycan

Heparin

Only intracellular glycosaminoglycan; functions as an anticoagulant

Keratan sulfate

Glycosaminoglycan composed of galactose instead of an acidic sugar

Hunter’s syndrome

Only X-linked recessive mucopolysaccharidosis

Morquio’s syndrome

No CNS involvement

Only mucopolysaccharidosis WITHOUT mental retardation

Corneal clouding

Clinical sign that differentiates Hurler from Hunter syndrome

⍺-L-iduronidase

Enzyme deficient in Hurler Syndrome

Sphingomyelin

Only significant sphingophospholipid in humans

Gaucher’s disease

Most common lysosomal storage disease

1. Recessive, X-linked

2. Rash

3. Renal failure

3 R's of Fabry's disease

Farber’s disease

Disease characterized by deficiency of ceramide and triad of rash, hoarseness, and bone malformation

Hexosaminidase A

Enzyme deficient in Tay-Sach's disease

Sphingomyelin

Glycolipid that accumulates in Niemann-Pick disease, causing hepatosplenomegaly

N-acetylgalactosamine (GalNAc)

Oligosaccharide present in the membrane of RBCs of Type A individuals

Galactose

Oligosaccharide present in the membrane of RBCs of Type B individuals