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Flashcards in porphyrias Deck (7)
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1

Acute Intermittent Porphyria is a deficiency in ___________deaminase preventing Porphobilinogen being converted to Hydroxymethylbilane

Porphobilinogen Deaminase

2

Acute Intermittent Porphyria is a deficiency in Porphobilinogen deaminase preventing Porphobilinogen being converted to Hydroxymethylbilane and what finding in the urine because of neurotoxic accumulation of ?

Urine turns dark red (port wine) because of excess porphobilinogen

3

Abdominal pain leading to psychiatric symptoms and then peripheral neuropathy is a finding in

Acute Intermittent porphyria precipitated by sun

4

Most Common Chronic porphyria that is precipitated by the sun or hepatic injury is a deficiency in?

Porphyria Cutanea Tarda deficiency in Uroporphyrinogen Decarboxylase

prevents Uroporphyrinogen III from turning into Coprophyrinogen III

5

This ferrochetalase deficiency is treated by avoiding the sun, cholestyramine, plasmapharesis to remove porphyrins, and you can also do IV hemin or a SCT

Erythropoeitic protoporphyria, seen in kids

6

Congenital Erythropoeitic Porphyria is the scary vampire one which is a deficiency in

Uroporphyrinogen III Cosynthase deficiency

treat w. a SCT and transfusion for the anemia

7

Urine testing for Porphyria Cutanea Tarda will show increased levels of

uroporphyrin and hepatocarboxyporphyrin