Genetic Disorders and Biochemical Pathology — Flashcards

Dermatosparaxis type of Ehlers Danlos syndrome (Type _____) is due to deficiency of procollagen N-peptidase

The enzyme _____ is deficient in HurLer syndrome

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

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

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

IL-_____ and ADAM33 polymorphisms are found in patients of asthma

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

_____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase

The enzyme _____ is deficient in Niemann Pick disease

Reye syndrome may occur due to decreased _____ secondary to reversible inhibition of mitochondrial enzymes in hepatocytes by aspirin metabolites