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

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

Primary hyperoxaluria is a defect in the metabolism of _____.

Type II Tyrosinemia is also called _____ type

The most common variant of G6PD deficiency is _____

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

Type _____ Niemann Pick disease presents with neurologic involvement

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

_____ deficiency is the most common inborn error of folate metabolism

Rhizomelic chondrodysplasia punctata, is a disorder of peroxisomes characterized by defects in the peroxin (PEX) family of genes - _____