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

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

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

_____ is caused by a defect of renal PCT and intestinal amino acid transporters, preventing reabsorption of cystine, ornithine, lysine, and arginine