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

The enzyme _____ is deficient in Tay-Sachs disease

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

The enzyme _____ is deficient in Gaucher disease

Duchenne muscular dystrophy is associated with increased serum _____ and aldolase

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

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

_____ is due to defects in the ATM gene