Genetic Disorders and Biochemical Pathology — Flashcards

Type _____ Tyrosinemia presents with Hepatic and renal insufficiency

_____ is caused by inactivating mutations of the Ca2+-sensing receptors that regulate PTH secretion

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

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

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

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

Wilson disease is characterized by _____ urinary copper

_____ syndrome is Abetalipoprotenemia and acanthocytosis + RP

-thalassemia is often due to mutations in _____ and promoter sequences