Disorders of Lipoprotein Metabolism — Flashcards

_____ mutations cause "syndrome of apparent mineralocorticoid excess" where cortisol activates mineralocorticoid receptor and results in hypertension and hypokalemia.

Deficiency of _____ leads to Canavan disease

The _____ allele of apolipoprotein E is associated with decreased risk for Alzheimer disease

A point mutation of the mitochondrial _____ gene leads to NARP syndrome

Wolman disease is due to deficiency of the enzyme _____

Canavan disease is an autosomal _____ disorder

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

The following symbol represents _____zygotic twins on a pedigree chart

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

The enzyme _____ is deficient in Tay-Sachs disease