Genetic Disorders and Biochemical Pathology — Flashcards

The enzyme _____ is deficient in Niemann Pick disease

Friedreich ataxia is caused by a mutated _____ gene on chromosome 9

Deficiency of the enzyme _____ causes albinism

_____ syndrome is due to a mutation in the STAT3 gene

_____ is characterized by a defect in the fructokinase enzyme

_____ is due to defect of the enzyme isovaleryl-coA dehydrogenase

Enzyme Replacement Therapy for _____ requires replacement of alpha-galactosidase A

_____ disease presents with deficiency of Hexosaminidase A and B

Affected genes in diaphyseal aclasis are  EXT1 and EXT2 located on chromosome _____ and 11 respectively

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