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enzyme in heme biosynthesis is ALA-synthase, regulated by a negative feedback mechanism (Figure 1).
A deficiency in one of the other seven enzymes results
in porphyria. Affected individuals are unable to
complete heme synthesis and intermediate products,
porphyrin and its precursors, accumulate. Lack of
heme results in an increased activity of ALA-synthase,
further stimulating the accumulation of porphyrin
precursors2.
Porphyrias are classified according to the specific
enzyme deficiency (Table 1). Another classification is
based on the major clinical features. Individuals with
acute porphyrias suffer from episodes with severe
abdominal pain, psychological symptoms and seizures1,2.
Cutaneous porphyrias are characterised by an increased
photosensitivity of the skin4. However, two types of
porphyria show characteristics of both acute and cutaneous porphyria (Table 1).
Figure 1. The heme biosynthetic pathway. ALA= d-aminolevulinic acid; PBG= porphobilinogen; HMB= hydroxymethylbilane; Uro-3 =
uroporphyrinogen III; Copro-3= coproporphyrinogen III; Proto-9= protoporphyrinogen IX ( Modified from 7).
2005 FDI/World Dental Press
0020-6539/05/02061-06
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Table 1
Porphyria
Deficient enzyme
Acute or cutaneous
Inheritance
ALA dehydratase
PBG deaminase
Uro synthetase
Uro decarboxylase
Copro oxidase
Proto oxidase
Ferrochelatase
Acute
Acute
Cutaneous
Cutaneous
Acute & cutaneous
Acute & cutaneous
Cutaneous
Unknown
Autosomal
Autosomal
Autosomal
Autosomal
Autosomal
Autosomal
Acute porphyrias
dominant
recessive
dominant
dominant
dominant
dominant
63
Figure 2. Skin reaction on the right ear and cheek of a patient with
Porphyria Cutanea Tarda (courtesy of G Smeenk)
Acute porphyrias
64
65
Contraindicated (unsafe)
Acetaminophen
Acetylsalicylic acid
Acyclovir
Amoxicillin
Amphotericin B
Bupivacaine
Codeine
Dexamethasone
Gentamicin
Ibuprofen
Naproxen
Nitrous oxide
Penicillins
Streptomycin
Alcohol
Clindamycin
Diclofenac
Erythromycin
Lidocaine
Mepivacaine
Metamizol
Miconazole
Oxazepam
Pyrazolones
66
References
1. Desnick RJ. The Porphyrias. In Braunwald E, Fauci AS,
Kasper DL, Hauser SL, Dongo DL, Janneson JL (eds)
Harrisons Principles of Internal Medicine. 14th ed. New York:
McGraw-Hill, 1998.
2. Kappas A, Sassa S, Anderson KE. The porphyrias. In Stanbury
JB, Wyngaarden JB, Frederickson DS, Goldstein JL, Brown
MS (eds) The metabolic base of inherited disease. 5th ed. pp 1301
1384. New York: McGraw-Hill 1995.
3. Thunell S. Porphyrins, porphyrin metabolism and porphyrias.
I. Update. Scand J Clin Lab Invest 2000 60: 509540.
4. Magnus IA. Cutaneous porphyria. Clin Haematol 1980 9: 273
302.
5. Rose L, Kaye D (eds). Internal medicine for dentistry. 2nd ed. pp
11021158. St Louis: Mosby, 1990.
6. Kauppinen R, Mustajoki P. Prognosis of acute porphyria:
occurence of acute attacks, precipitating factors and associated diseases. Medicine 1992 71: 113.
7. Andersson C. Acute intermittent porphyria in northern