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

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

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

Type _____ Tyrosinemia presents with Hepatic and renal insufficiency

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

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

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

HHH syndrome is characterised by _____, hyperornithinemia and homocitrullinuria

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

Hint: inheritance

_____ syndrome is due to a trinucleotide repeat in the FMR1 gene