Molecular change in lysosomal storage diseases?
Mutation of genes encoding lysosomal hydrolases
Enzyme therapy is recently approved for?
Monteaux Lamy disease, Pompe’s diseae
Macrocephaly?
Canavan disease
Globoid bodies are seen in?
Krabbe’s disease
Splenomegaly is NOT seen in?
Krabbe disease
Uronic acid level in urine is elevated in?
Mucopolysaccharoidoses
Corneal clouding is NOT seen in?
Products accumulated in Hunter syndrome?
Dermatan sulphate, Heparan sulphate
Only male are affected in?
Hunter syndrome
X-linked mucopolysacchroidoses?
Hunter syndrome, Fabry disease
