Genetic Disorders and Biochemical Pathology — Flashcards

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

Primary hyperoxaluria is a defect in the metabolism of _____.

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

Type II Tyrosinemia is also called _____ type

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

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

Hyperammonemia type 2 occurs due to deficiency of the enzyme _____

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