Genetic Disorders and Biochemical Pathology — Flashcards

The enzyme _____ is deficient in Fabry disease

Deficiency of the enzyme _____ causes alkaptonuria

Homocystinuria I due to decreased affinity of cystathionine synthase for B6 is treated with very increased _____ and increased cysteine in the diet

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

X-linked recessive Ichthyosis is due to a mutation in _____ gene encoding steroid sulfatase enzyme

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

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

Duchenne muscular dystrophy is associated with increased serum _____ and aldolase

Mutation in _____ gene on chromosome 4 is the cause behind facioscapulohumeral dystrophy

Aβ amyloid is derived from _____ protein, which is encoded on chromosome 21