Porphyrias — Flashcards

_____ porphyria is due to deficiency of enzyme protoporphyrinogen oxidase

_____ is due to deficiency of the enzyme porphobilinogen deaminase

_____ protoporphyria is caused by the deficiency of the enzyme ferrochelatase

Porphyria cutanea tarda is characterised by increased _____ in the urine

Which epileptic syndrome has been associated with mutations in genes: ? _____

The following symbol represents _____zygotic twins on a pedigree chart

What substrates accumulate in the lysosomes of a patient with Krabbe disease? _____ and psychosine

The enzyme _____ is deficient in Tay-Sachs disease

Enzyme Replacement Therapy for _____ disease requires replacement of alpha-1,4-glucosidase (aka acid maltase)

_____ disease is caused by a deficiency of the enzyme branching enzyme