Genetic Disorders and Biochemical Pathology — Flashcards

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

The enzyme _____ is deficient in metachromatic leukodystrophy

Deficiency of the enzyme _____ causes alkaptonuria

The enzyme _____ is deficient in Fabry disease

_____ diseases often demonstrate variable expression in a population or within a family due to heteroplasmy

_____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase

_____ builds up in Type I tyrosinemia and takes an alternate pathway to convert to Succinylacetone

Enzyme Replacement Therapy for _____ disease requires replacement of Glucocerebrosidase

_____ syndrome is caused by an activating mutation in one copy of the GNAQ gene

Raised _____ levels are used in neonatal screening for Type I tyrosinemia