Genetic Disorders and Biochemical Pathology — Flashcards

CADASIL is caused by mutations in the _____ gene, which lead to the misfolding of the extracellular domain of the receptor, preferentially expressed in vascular smooth muscle

Lack of a specific lysosomal hydrolase for glycoproteins will lead to what disease?_____

Stargardt's disease is caused by a mutation on an _____ gene.

Calcium pyrophosphate crystal deposition disease is caused by germline mutations in the _____ transport channel

CNS damage in patients with phenylketonuria (PKU) is due to increased levels of _____

What is the mode of inheritence of ALA-Dehydratase porphyria?_____

The most common inborn error of methionine metabolism is _____

Porphyria cutanea tarda is characterised by increased _____ in the urine

Wolman disease is due to deficiency of the enzyme _____

Argininosuccinic aciduria is due to argininosuccinate _____ deficiency.