Genetic Disorders and Biochemical Pathology — Flashcards

Huntington disease is caused by expanded trinucleotide repeats of CAG in the _____ gene on chromosome 4

Apart from Apo E4 mutation, late-onset Alzheimer's is also associated with _____ mutation on chromosome 6

Adrenoleukodystrophy is due to a mutation in a _____ membrane transporter, preventing very long chain fatty acids (VLCFAs) from being tagged with coenzyme A

The enzyme _____ is deficient in HunTer syndrome

Type III familial dyslipidemia is confirmed by genetic analysis that shows absence of E_____ and E4 Apo alleles

Deficiency of the enzyme _____ causes phenylketonuria (PKU)

The TSC2 gene encodes for _____ and is located on chromosome 16 (mutated in tuberous sclerosis)

The _____ variant of G6PD deficiency results in markedly reduced half-life of G6PD

_____ is a defect in the enzyme propionyl-CoA carboxylase

_____ disease is caused by impaired copper absorption and transport due to a defect in the ATP7A gene