Porphyria variegate

This group includes acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. 

Hift RJ, Meissner PN (2005) An analysis of 112 acute porphyric attacks in Cape Town, South Africa. Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine 84 48-60... 

Protoporphyrinogen oxidase converts protoporphyrinogen IX to the fully desaturated porphyrin in a reaction that uses O2 as the terminal electron acceptor (Fig. 3). The crystal structure of the homodimeric enzyme shows it has one FAD per monomer, which presumably mediates the porphyrin oxidation reaction (19). Like the decarboxylation mediated by coproporphyrinogen oxidase, this reaction also occurs in the mitochondrion. Mutations in the protoporphyrinogen oxidase gene are responsible for variegate porphyria (21). Acute attacks of this disease can be effectively treated by intravenous administration of hematin. 

Whatley SD, Puy H, Morgan RR, Robreau AM, Roberts AG, Nordmann Y, Elder GH, Deybach JC. Variegate porphyria in 41. Western Europe identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am. J. Hum. Genet. 42. 1999 65 984-994. 

It is of interest that those who inherited acute intermittent porphyria and variegate porphyria suffered no biological disadvantage from the natural environment and bred as well as the normal population until the introduction of barbiturates and sulphonamides. They are now at serious disadvantage, for many other drugs can precipitate fatal acute attacks. 

Variegate porphyria VP Protoporphyrinogen oxidase autosomal dominant... 

Da Silva, V., Simonin, S., Deybach, J.C., Puy, H., Nordmann, Y. Variegate porphyria diagnostic value of fluometric scanning of plasma porphyrins. Clin. Chim. Acta 1995 238 163-168... 

In Table 32-4 the porphyrias are divided into the acute porphyrias, in which acute neurovisceral attacks occur, and the nonacute porphyrias. Other classifications include division into hepatic (acute intermittent porphyria (AIP], hereditary coproporphyria [HOP], variegate porphyria [VP], and PCT) and erythropoietic (congenital erythropoietic porphyria [CEP], erytliropoietic protoporphyria [EPP]) porphyrias according to the main site of overproduction of... 

Fraunberg M von und zu, Timonen K, Mustajoki P, Kauppinen R. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. Eur J Hum Genet 2002 10 649-57. 

Hilt RJ, Davidson BP, van der Hooft C, Meissner DM, Meissner PN. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem 2004 50 915-23. 

Long C, Smyth SLS, Woolf J, Murphy GM, Finlay AY, Newcombe RG, et al. Detection of latent variegate porphyria by fluorescence emission spectroscopy of plasma. Brit J Dermatol 1993 129 9-13. 

Meissner P, Hift R, Corrigall A. Variegate porphyria. In Kadish KM, Smith KM, Guilard R, eds. The porphyrin handbook, vol. 14, Medical aspects of porphyrias. Amsterdam Academic Press, 2003 93-120. 

Poh-Fitzpatrick MB. A plasma fluorescence marker for variegate porphyria. Arch Dermatol 1980 116 543-7. 

Porphyria maybe classified as hepatic or erythropoietic. However, enzyme defects are sometimes common to both tissues. Porphyrias can be induced by alcohol, stress, infection, starvation, hormonal changes (e.g., menstruation), and certain drugs. These drugs presumably precipitate acute manifestations in susceptible subjects since they are inducers of cytochrome P-450 and increase the need for synthesis of heme as they deplete the mitochondrial pool of free heme. Major hepatic porphyrias include acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and porphyria cutanea tarda. The principal erythropoietic porphyrias are hereditary erythropoietic porphyria and erythropoietic protoporphyria. 

Variegate porphyria AD, Neurovisceral. skin lesions in some, acute episodes... 

Hryhorczuk DO, Hogan MM. Variegate porphyria and heavy metal poisoning from ingestion of moonshine. South Med J 1983 76 1027— 1031. 

Figure 44-3. Heme biosynthetic pathway and characteristics associated with specific enzyme-deficiency porphyrias. ADP = ALA dehydratase deficiency porphyria AIP = acute intermittent porphyria CEP = congenital erythropoietic porphyria PCT = porphyria cutanea tarda HEP = hepatoerythropoietic porphyria HCP = hereditary coproporphyria VP = variegate porphyria EPP = erythropoietic protoporphyria.

C. Variegate porphyria PPG heterozygous deficiency causing protoporphyrin IX backlog. 

C. Variegate porphyria patients present with the same, but generally milder, symptoms as AlP. The emission wavelength at 626 nm is characteristic of protoporphyrin IX the compound is responsible for the skin sensitivity not observed in AIR PCT can also be ruled out because the characteristic fluorescence emission for uroporphyrin is 615 nm. Homozygous deletion of PPO is unlikely because the patient s symptoms were triggered by stress in the form of caloric restriction. Patients with homozygous deficiency in the heme synthesis enzymes show early onset and more severe symptoms. 

Forms of porphyria include ALAS deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. 

Short-term administration of barbiturates has no clinically significant effect on the hepatic, renal, or endocrine systems. A single induction dose of thiopental does not alter tone of the gravid uterus, but may produce mild transient depression of newborn activity. Drug-induced histamine release is occasionally seen. Barbiturates can induce fatal attacks of porphyria in patients with acute intermittent or variegate porphyria and are contraindicated in such patients. Unlike inhala-tional anesthetics and succinylcholine, barbiturates and all other parenteral anesthetics apparently do not trigger malignant hyperthermia. 

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