Genetic Disorders and Biochemical Pathology — Flashcards

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

Primary hyperoxaluria is a defect in the metabolism of _____.

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

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

Type II Tyrosinemia is also called _____ type

The most common variant of G6PD deficiency is _____

Type _____ Niemann Pick disease presents with neurologic involvement

Which adrenal enzymes are deficient in Antley-Bixler syndrome?_____

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

Hyperammonemia type 2 occurs due to deficiency of the enzyme _____