Porphyrias

Question 1

PORPHYRIAS are

Answer 1

diseases characterized by impaired production of HEME

Question 2

heme biosynthesis is most prominent in

Answer 2

Bone marrow & liver

Question 3

porphyra means

Answer 3

purple

Question 4

photosensitivity is caused by

Answer 4

accumulated products are fluorescent

Question 5

•Lead poisoning is an

Answer 5

Acquired porphyria

Question 6

lead inhibits enzymes

Answer 6

pyrimidine 5’-nucleotidase and ferrochelatase

Question 7

hypochromic RBCs with basophilic stippling

Answer 7

Lead poisoning

Question 8

Zinc erythrocyte protoporphyrin test result of lead poisoning

Answer 8

Elevated

Question 9

Ferrochelatase aka

Answer 9

heme synthetase

Question 10

Ferrochelatase function

Answer 10

enzyme for insertion of ferrous to protoporphyrin IX ring

Question 11

pyrimidine 5’-nucleotidase function

Answer 11

enzyme for complete removal of RNA remnants from retics

Question 12

Gunther’s disease

Answer 12

Congenital Eryhtropoietic porphyria

Question 13

Gunther’s disease associated with

Answer 13

Werewolves

Question 14

Congenital Eryhtropoietic porphyria enzyme affected

Answer 14

Uroporphyrinogen III

synthase deficiency

Question 15

Erythropoietic

Protoporphyria enzyme affected

Answer 15

Ferrochelatase deficiency

Question 16

X-linked Erythropoietic

Protoporphyria enzyme deficient

Answer 16

ALA-synthase 2 (gain of

function)

Question 17

marked decrease uroporphyrinogen II synthetase activity

Answer 17

Congenital
Erythropoietic
Porphyria (CEP)

Question 18

↓↓ Ferrochelatase

activity

Answer 18

Erythropoietic
Protoporphyria
(EPP)

Question 19

↑↑ ALA-synthase
activity;
↑↑ free erythrocyte
protoporphyrin and
zinc protoporphyrin

Answer 19

X-linked
Erythropoietic
Protoporphyria
(XLEPP)