L.6 Carbohydrate Diseases

Question 1

Lactose Intolerance/Isomaltase-Sucrase Deficiency

Answer 1

• Inability to digest lactose/sucrose
• Lactose/Sucrose pass to large intestine and attract water
• Intestinal bacteria degrade lactose to CO2 and H2
• Flatulence, abdominal cramps, diarrhea

Question 2

Hunter Syndrome

Answer 2

• Iduronate Sulfatase deficiency
• Dermatan sulfate and heparan sulfate
• Deficient lysosomal degradation of GAGs
• Mild to severe MR, physical deformity

Question 3

Hurler Syndrome

Answer 3

• a-L-iduronidase deficiency
• Dermatan sulfate and heparan sulfate
• Deficient lysosomal degradation of GAGs
• Corneal clouding, MR, dwarfism, coarse facial features, upper airway obstruction, coronary artery ischemia

Question 4

I-Cell Disease

Answer 4

• Inability to phosphorylate mannose on N-linked oligosaccharide on lysosomal enzyme
• Lysosomal enzymes are not delivered to lysosomes and get secreted
• Macromolecules are not degraded (enlarged lysosomes, inclusion bodies)
• High levels of lysosomal enzymes in blood
• Skeletal deformites, low joint movement, coarse facial features, psychomotor impairment