Flashcards in porphyrias Deck (7)
Acute Intermittent Porphyria is a deficiency in ___________deaminase preventing Porphobilinogen being converted to Hydroxymethylbilane
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
Abdominal pain leading to psychiatric symptoms and then peripheral neuropathy is a finding in
Acute Intermittent porphyria precipitated by sun
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
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
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