Genetic Disorders and Biochemical Pathology — Flashcards

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

Type _____ Tyrosinemia presents with Hepatic and renal insufficiency

HHH syndrome is characterised by _____, hyperornithinemia and homocitrullinuria

The _____ allele of apolipoprotein E is associated with decreased risk for Alzheimer disease

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

The _____ allele of apolipoprotein E on chromosome 19 is associated with increased risk for Alzheimer disease

If a uniparental disomy results in a _____ offspring, there may have been a meiosis I error

Acrodermatitis enteropathica is caused by a mutation in the intestinal zinc transporter gene,_____, found on chromosome 8q24.3

_____ occurs due to the inability to convert orotic acid to UMP due to a defect in the enzyme UMP synthase (pyrimidine synthesis)

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