Biochemistry

Question 1

what scale is used to describe photosensitivity?

Answer 1

Fitzpatrick skin scale

Question 2

what are porphyria’s

Answer 2

group of conditions that cause abnormalities in enzymes involved in making haem resulting in overproduction of porphyrins

Question 3

what enzyme abnormality is present in porphyria cutaenea tarda type 1?

Answer 3

uroporphyrinogen decarboxylase

Question 4

what is porphyria cutaenea tarda type 1 associated with?

Answer 4

chronic liver disease and excess iron in the liver

Question 5

presentation of porphyria cutaenea tarda type 1

Answer 5

when exposed to SUNLIGHT there is bulbous blisters, hyperpigmentation, hypertrichosis, etc.

Question 6

management of porphyria cutaenea tarda type 1

Answer 6

treat the liver disease

Question 7

what is the enzyme abnormality present in erythropoietic protoporphyria?

Answer 7

ferrochelatase

Question 8

presentation of erythropoietic protoporphyria

Answer 8

when exposed to sunlight there is irritation and burning in the skin which can scar

children

Question 9

monitoring required in erythropoietic protoporphyria

Answer 9

LFT monitoring

RBC

Question 10

enzyme abnormality in acute intermittent porphyria

Answer 10

porphobilinogen

Question 11

presentation of acute intermittent porphyria

Answer 11

acute neurotoxic reaction