Genetic Disorders and Biochemical Pathology — Flashcards

_____ is characterized by a deficiency of the enzyme aldolase B

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

The enzyme _____ is deficient in Tay-Sachs disease

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

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

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 Fabry 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