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

Type I plasminogen deficiency (hypoplasminogenemia) is due to an _____ mutation in the PLG gene

Hint: inheritance

In _____ syndrome, the maternal gene is imprinted and the paternal gene is mutated/deleted

Hint: Prader-Willi OR Angelman

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

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.

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

Wilson disease is characterized by _____ urinary copper

The enzyme _____ is deficient in Krabbe disease

_____ syndrome is Abetalipoproteinemia and acanthocytosis + RP