Genetic Disorders and Biochemical Pathology — Flashcards

_____ disrupts the peroxisomal metabolism of very-long-chain fatty acids, resulting in excessive buildup in the nervous system, adrenal gland, and testes

Cystic fibrosis most commonly occurs due to an _____ deletion of Phe508

Crigler-Najjar syndrome type _____ is less severe and responds to phenobarbital, which increases liver enzyme synthesis

Gilbert syndrome occurs due to _____ defect of the UGT1A1 enzyme gene.

_____ mutations cause "syndrome of apparent mineralocorticoid excess" where cortisol activates mineralocorticoid receptor and results in hypertension and hypokalemia.

Wilson disease is characterized by _____ urinary copper

In 5-alpha-reductase deficiency, there are _____ levels of testosterone and normal/increased levels of LH

The TSC1 gene encodes for _____ and is located on chromosome 9 (mutated in tuberous sclerosis)

Type _____ tyrosinemia is characterised by the deficiency of enzyme aminotransferase

Familial cases of Alzheimer disease are associated with mutations in _____ and presenilin-2