Genetic Disorders and Biochemical Pathology — Flashcards

Duchenne muscular dystrophy is associated with increased serum _____ and aldolase

_____ is characterized by a deficiency of the enzyme aldolase B

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

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

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

The enzyme _____ is deficient in Fabry disease

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

Deficiency of the enzyme _____ causes alkaptonuria

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

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