Genetic Disorders and Biochemical Pathology — Flashcards

The enzyme _____ is deficient in Gaucher disease

The enzyme _____ is deficient in metachromatic leukodystrophy

The enzyme _____ is deficient in Fabry disease

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

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

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

_____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase

Deficiency of the enzyme _____ causes maple syrup urine disease