Heme Biosynthesis & Disorders Flashcards
two precursors of heme
succinyl CoA & glycine
daily synthesis amount of heme in humans
5-8mmol/kg body weight
rate limiting step of heme synthesis
Amino Levulinic Acid production. (ALAS)
*enzyme - ALAS synthase
deficiency of Uroporhyrinogen 1 synthase results in what type of porphyria ?
Acute Intermittent Porphyria
deficiency of Uroporphyrinogen 111 synthase causes what type of porphyria ?
Congenital Erythropoietic Porphyria
Porphyria Cutanea Tarde is caused by deficiency of what enzyme ?
Uroporphyrinogen decarboxylase
final enzyme in heme synthesis is
& it’s deficiency causes ?
ferrochelatase
*erythropoietic protoporhyria
what are the 8 types of porphyrias?
1) ALA Dehydratase Deficiency Porphyria (ADP)
2) Acute Intermittent Porphyria (AIP)
3) Porphyria Cutanea Tarda (PCT)
4) Hereditary Corpoporhyria (HCP)
5) Congenital Erythropoietic Porphyria (CEP)
6) Erythropoietic Protoporhyria (EPP)
7) Variegate porphyria (VP)
8) Hereditary Erythropoietic Porphyria (HEP)
list the acute porphyrias
1) AIP
2) ADP
3) VP
4) HCP
which acute porphyria is Autosomal recessive ?
ADP
Non acute/Cutaneaous porphyrias include
1) CEP
2) PCT
3) EPP
Hepatic porphyrias include
1) AIP
2) PCT
3) VP
4) HCP
Erythropoietic porphyrias
1) CEP
2) EPP
CEP is autosomal __ while PCT Is autosomal __
recessive , dominant
Uroporphyrin has 8 carboxyl groups and is extremely soluble in water
T/F
True
