Porphyrias Flashcards
1
Q
Females (3o y/o), acute abdomen, mood disturbance/neuro symptoms and intermittent photosensitivity? Dx?
A
Acute intermittent porphyria
2
Q
Enzyme deficiency in acute intermittent porphyria?
A
Porphobiliongen deaminase
3
Q
Porphyrin accumulated in acute intermittent porphyria ?
A
Porphobilionogen
4
Q
Middle aged men with liver disease - photosensitive lesions on backs of hands Dx?
A
Porphyria cutanea tarda
5
Q
Enzyme def in prophyria cutanea tarda?
A
Uroporphophyrinogen decarboxylase
6
Q
Porphyrin accumulated in PCT?
A
Uroporphyrinogen 3
7
Q
Baby crying in sun Dx?
A
Erythropoetic protoporphyria (EPP)
8
Q
Enzyme def in EPP?
A
Ferrochelatase
9
Q
Porphyria accumulated in EPP?
A
Protoporphyrin IX