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
_ is the least soluble porphyrin
protoporhyrin (2 carboxyl groups)
*excreted in feaces
corpoporhyrin contains _ carboxyl groups and is relatively soluble
4 carboxyl groups
Copro & Proto levels in VP vs HPC
VP - both raised
HPC - only Copro is raised
free erythrocyte prophyrin is high in which porphyrias ?
EPP & CEP
what are the 3 cutaneous porphyrias?
1) PCT
2) CEP
3) PP
red urine appears in which porphyria?
CEP
color of urine in acute porphyrias
red brown
PBG is analyzed with what reagent ?
Ehrlich’s.
