Disorders

Question 1

I cell disease

pathophysiology

Answer 1

Defect in N acetylglucosaminyl 1 phosphotransferase
falure of golgi to phophorylate mannose residues to Mannose 6 phosphate
proteins get secreteted extracellularly rather than delivered to lysosomes

Question 2

I Cell Disease

Clinical presentation

Answer 2

coarse facial features
clouded corneas
restricted joint movement
high plasma levels of lysosomal enzynmes
often fatal in childhood

Question 3

Zellweger syndrome

Answer 3

Defect in perozxxisomes 
hypotonia
sezures
hepatomegaly
early death

Question 4

Refsum disease

Answer 4

Defect in peroxisomes
Scaly skin
ataxia
cataracts/night blindness
shortening of 4th toe
epiphyseal dysplasia