Genetic Disorders and Biochemical Pathology — Flashcards

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 Fabry disease

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

What substrates accumulate in the lysosomes of a patient with Krabbe disease? _____ and psychosine

CGG _____ in FMR1 gene leads to gain of function and is seen in Fragile X-associated primary ovarian failure, along with Fragile X-ataxia.

The enzyme _____ is deficient in metachromatic leukodystrophy

The enzyme _____ is deficient in Tay-Sachs disease

_____ is characterized by a deficiency of the enzyme aldolase B

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