Lysosomal Storage Diseases — Flashcards

Enzyme Replacement Therapy for _____ disease requires replacement of Glucocerebrosidase

Fabry s disease is inherited as _____ disorder.

The enzyme _____ is deficient in HunTer syndrome

What enzyme deficiency is seen in Farber's disease?_____

Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis

Enzyme Replacement Therapy for _____ disease requires replacement of alpha-1,4-glucosidase (aka acid maltase)

Which sphingolipidosis is associated with the development of vortex keratopathy?_____

Which epileptic syndrome has been associated with mutations in genes: ? _____

The following symbol represents _____zygotic twins on a pedigree chart

The enzyme _____ is deficient in metachromatic leukodystrophy