Genetic Disorders and Biochemical Pathology — Flashcards

Most sensitive and accurate test in diagnosing Wilson's disease is increased _____ content

Hawkinsinuria occurs due to missense mutations in gene encoding which enzyme?_____

A mitochondrially inherited disease manifests if a minimum number of copies of mutant mtDNA are present in the mitochondria that can lead to oxidative dysfunction, called the _____ effect

The most common variant of G6PD deficiency is _____

Type _____ Niemann Pick disease presents with neurologic involvement

X-linked adrenal hypoplasia is due to mutation of _____ gene on Xp21

Type II Tyrosinemia is also called _____ type

LHON is related to a mitochondrial DNA mutation, most frequently at the _____ position

Canavan disease is an autosomal _____ disorder

_____ deficiency is the most common inborn error of folate metabolism