Genetic Disorders and Biochemical Pathology — Flashcards

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

Type _____ Tyrosinemia presents with Hepatic and renal insufficiency

HHH syndrome is characterised by _____, hyperornithinemia and homocitrullinuria

_____ 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

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)

Enzyme Replacement Therapy for _____ requires replacement of alpha-L-iduronidase

_____ is due to deficiency of the enzyme porphobilinogen deaminase