Membrane Transport

Question 1

hereditary GLUT-1 deficiency

Answer 1

• hereditary GLUT-1 deficiency
• Dx: serum [glucose]: CSF [glucose] < 0.4
• Sx: seizures, development delay & complex motor disorder
• Rx: high fat, low CHO diet, elevating blood ketone bodies so brain will adapt to using to using ketone bodies for E.

Question 2

Cystic Fibrosis

Answer 2

• mutations in gene for CFTR chloride channel (ATP-dependent)
• CFTR in epithelial cells in lungs & secretory ducts of pancreas
• Most common mutation: deletion of Phe @ position 508 causing protein misfolding
• Absence of Cl- secretion, dried mucous blocks ducts & airways
• Sx: Salty sweat, lung infections due to reduced mucous clearance, reduced pancreatic secretions leading pancreatitis, steatorrhea, malnutrition & deficiency of fat-soluble vitamins