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

_____ disease is caused by a deficiency of the enzyme lysosomal -1,4-glucosidase (acid maltase)

Nonhomologous End Joining is defective in _____ and Ataxia Telangiectasia

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

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

_____ is a tumor suppressor gene that encodes for the protein Hamartin

_____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase

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

The enzyme _____ is deficient in Niemann Pick disease