Glycogen Storage Diseases — Flashcards

_____ disease is caused by a deficiency of the enzyme branching enzyme

Lack of a specific lysosomal hydrolase for glycoproteins will lead to what disease?_____

Refsumm disease is an _____ metabolic disorder caused by defective alpha-oxidation

Treatment of Von Gierke disease includes frequent oral _____ or cornstarch between meals

Wolman disease is due to deficiency of the enzyme _____

Which gene mutation is implicated in Imerslund-Grasbeck syndrome?_____

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

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