porphyrias

Question 1

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

Answer 1

Porphobilinogen Deaminase

Question 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 ?

Answer 2

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

Question 3

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

Answer 3

Acute Intermittent porphyria precipitated by sun

Question 4

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

Answer 4

Porphyria Cutanea Tarda deficiency in Uroporphyrinogen Decarboxylase

prevents Uroporphyrinogen III from turning into Coprophyrinogen III

Question 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

Answer 5

Erythropoeitic protoporphyria, seen in kids

Question 6

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

Answer 6

Uroporphyrinogen III Cosynthase deficiency

treat w. a SCT and transfusion for the anemia

Question 7

Urine testing for Porphyria Cutanea Tarda will show increased levels of

Answer 7

uroporphyrin and hepatocarboxyporphyrin