Porphyrias Flashcards
Lead Poisoning inhibits what enzymes?
Ferrochelatase
ALA Dehydratase
What accumulates in Lead Poisoning?
Protoporphyrin
D-ALA
What two steps in heme synthesis occur in mitochondria?
D-ALA Synthase (rate limiting)
Ferrochelatase
Acute Intermittent Porphyria what enzyme defect?
Porphobilinogen Deaminase
What builds up in Acute Intermittent Porphyria?
Porphobilinogen
D-ALA
What builds up in urine in Acute Intermittent Porphyria?
Coporphobilinogen
Symptoms of AIP?
Painful Abdomen Port wine-colored urine (changes color) Polyneuropathy Psych disturbances Precipitated by CYP inducers, alcohol, starvation
Treatment of AIP?
Glucose and Heme
Porphyria Cutanea Tarda enzyme defect?
Uroporphyrinogen Decarboxylase
What builds up in Porphyria Cutanea Tarda?
Uroporphyrin (tea-colored urine)
Symptoms of Porphyria Cutanea Tarda?
Blistering Cutaneous Photosensitivity
Sideroblastic Anemia (X-linked) what enzyme defect?
D-ALA Synthase
Glycine/Succinyl CoA -> D-ALA
D-ALA Synthase (requires B6)
D-ALA -> Porphobilinogen
D-ALA Dehydratase (Pb Poisoning)
Porphobilinogen -> Hydroxymethylbilane
Porphobilinogen Deaminase (AIP)