74:
243:, which is critical to the chemical process that leads to heme production. The activity of this enzyme is reduced by 50 percent in most people with variegate porphyria. In severe cases that begin early in life, the enzyme is almost completely inactive. Nongenetic factors such as certain drugs, stress, and others listed above can increase the demand for heme and the enzymes required to make heme. The combination of this increased demand and reduced activity of
218:
48:
921:
901:
393:
276:
A 2006 clinical, biochemical and mutational study of eight Swiss variegate porphyria patients and their families found four novel PPOX gene mutations believed to be unique to the Swiss population.
1256:
284:
Diagnosis is by finding raised urine porphyrins, raised faecal porphyrins, markedly raised plasma porphyrins (pathognomic) and finding photosensitive cutaneous lesions on clinical examination.
209:
Rarely, the signs and symptoms of variegate porphyria can begin in infancy or early childhood. In such cases, the signs and symptoms are usually more severe than those starting later in life.
258:, and inheriting one copy of the defective gene from an affected parent is sufficient to cause the disorder. More severe cases result from inheriting two copies of the defective gene.
1088:
458:
Bissbort S, Hitzeroth HW, du
Wentzel DP, et al. (July 1988). "Linkage between the variegate porphyria (VP) and the alpha-1-antitrypsin (PI) genes on human chromosome 14".
1036:
860:
269:, however mapping experiments (FISH) have shown that it is near 1q23. An additional aggravating mutation affecting variegate porphyria can be found at 6p21.3 on the
261:
The entire PPOX gene has about 8kb with 13 exon sequences. It was successfully cloned from a cDNA library in 1995 revealing that, after processing, it is 477
774:
Wiman A, Harper P, Floderus Y (August 2003). "Nine novel mutations in the protoporphyrinogen oxidase gene in
Swedish families with variegate porphyria".
1029:
1266:
680:
378:
353:
398:
936:
1022:
503:"Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23"
817:
Rossi E, Chin CY, Beilby JP, Waso HF, Warnich L (September 2002). "Variegate porphyria in
Western Australian Aboriginal patients".
1122:
307:, the prevalence of variegate porphyria is approximately 1 in 300. In Finland, the prevalence is approximately 1 in 75,000.
1171:
1157:
1005:
1093:
164:
1206:
1201:
247:
disrupts heme production and allows byproducts of the process to accumulate in the liver, triggering an acute attack.
1226:
412:
244:
240:
187:. These signs and symptoms are triggered by nongenetic factors such as certain drugs, dieting or fasting, certain
1142:
1063:
947:
1118:
541:
502:
854:
55:
1196:
127:
that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the
41:
Mixed hepatic porphyria, Mixed porphyria, South
African genetic porphyria, and South African porphyria.
1261:
925:
73:
842:
799:
612:
483:
440:
251:
121:
82:
17:
1059:
958:
834:
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62:
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1113:
1001:
140:
217:
1231:
751:
724:
930:
47:
1250:
830:
787:
266:
184:
167:) or skin damage. Acute attacks usually begin in adulthood and cause abdominal pain,
67:
846:
803:
616:
542:"Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria"
487:
444:
202:). Areas of skin exposed to the sun develop severe blistering, scarring, changes in
1009:
987:
304:
236:
203:
176:
725:"Genetic and biochemical studies in Argentinean patients with variegate porphyria"
696:
Mustajoki, P. (1980). "Variegate porphyria. Twelve years' experience in
Finland".
952:
206:, and increased hair growth. Exposed skin becomes fragile and is easily damaged.
963:
910:
270:
265:
long. It has previously been thought that the PPOX gene was located on human
262:
144:
1176:
1068:
1054:
1014:
982:
518:
319:
311:
172:
124:
838:
795:
760:
741:
657:
608:
599:
582:
567:
558:
436:
194:
Some people with variegate porphyria have skin that is overly sensitive to
709:
526:
479:
255:
225:
195:
168:
471:
188:
180:
893:
428:
905:
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315:
221:
Variegate porphyria has an autosomal dominant pattern of inheritance.
148:
132:
88:
216:
179:. During an attack, a person may also experience muscle weakness,
152:
540:
de
Villiers JN, Hillermann R, Loubser L, Kotze MJ (August 1999).
369:
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
1045:
941:
914:
723:
Rossetti MV, Granata BX, Giudice J, Parera VE, Batlle A (2008).
632:"Recovery from a variegate porphyria by a liver transplantation"
501:
Roberts AG, Whatley SD, Daniels J, et al. (December 1995).
235:
cause variegate porphyria. The PPOX gene makes a membrane bound
232:
229:
163:
When symptoms occur, they can include acute attacks (similar to
136:
128:
1018:
583:"Swiss patients with variegate porphyria have unique mutations"
630:
Stojeba N, Meyer C, Jeanpierre C, et al. (July 2004).
139:
production. Heme is a vital molecule for all of the body's
873:
344:
James, William D, Berger, Timothy G, et al. (2006).
254:
pattern, which means the defective gene is located on an
671:
Arceci, Robert.; Hann, Ian M.; Smith, Owen P. (2006).
883:
1257:
Skin conditions resulting from errors in metabolism
1215:
1185:
1170:
1131:
1114:
Gunther disease/congenital erythropoietic porphyria
1102:
1077:
1053:
973:
887:
346:
103:
95:
81:
61:
37:
32:
872:This article incorporates public domain text from
295:has been used in the treatment of this condition.
413:"Variegate porphyria: past, present and future"
131:. The disorder results from low levels of the
1030:
8:
859:: CS1 maint: multiple names: authors list (
1182:
1074:
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884:
581:Schneider-Yin X, Minder EI (August 2006).
72:
46:
29:
750:
740:
647:
598:
557:
339:
337:
335:
183:, and mental changes such as anxiety and
331:
250:Variegate porphyria is inherited in an
852:
874:The U.S. National Library of Medicine
7:
135:responsible for the seventh step in
417:Skin Pharmacol. Appl. Skin Physiol
25:
698:The Quarterly Journal of Medicine
831:10.1046/j.1445-5994.2002.00274.x
788:10.1034/j.1399-0004.2003.00116.x
675:. Malden, Mass.: Blackwell Pub.
411:Frank J, Christiano AM (1998).
18:South African genetic porphyria
1123:Hepatoerythropoietic porphyria
1:
1172:Hereditary hyperbilirubinemia
1158:Erythropoietic protoporphyria
1267:Autosomal dominant disorders
1094:Acute intermittent porphyria
399:Dorland's Medical Dictionary
165:acute intermittent porphyria
147:, the molecule that carries
1283:
245:protoporphyrinogen oxidase
241:protoporphyrinogen oxidase
117:
1143:Hereditary coproporphyria
819:Internal Medicine Journal
371:Dermatology: 2-Volume Set
54:
45:
1207:Lucey–Driscoll syndrome
1202:Crigler–Najjar syndrome
1119:Porphyria cutanea tarda
143:. It is a component of
1227:Dubin–Johnson syndrome
742:10.1186/1471-2350-9-54
600:10.4414/smw.2006.11472
222:
519:10.1093/hmg/4.12.2387
394:"porphyria variegata"
348:. Saunders Elsevier.
220:
56:Protoporphyrinogen IX
1080:early mitochondrial:
1048:metabolism disorders
559:10.1093/hmg/8.8.1517
373:. St. Louis: Mosby.
310:It is also found in
1153:Variegate porphyria
1134:late mitochondrial:
1002:Variegate porphyria
673:Pediatric hematolog
118:several other names
114:Variegate porphyria
33:Variegate porphyria
1197:Gilbert's syndrome
974:External resources
472:10.1007/BF00366255
252:autosomal dominant
223:
159:Signs and symptoms
122:autosomal dominant
107:liver transplants.
99:genetic mutations.
1244:
1243:
1240:
1239:
1166:
1165:
997:
996:
825:(9–10): 445–450.
682:978-1-4051-3400-2
429:10.1159/000029854
380:978-1-4160-2999-1
355:978-0-7216-2921-6
111:
110:
27:Medical condition
16:(Redirected from
1274:
1220:
1190:
1183:
1148:Harderoporphyria
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858:
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814:
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704:(194): 191–203.
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651:
649:10.1002/lt.20136
627:
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593:(31–32): 515–9.
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455:
449:
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408:
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293:Liver transplant
116:, also known by
87:skin problems,
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50:
30:
21:
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546:Hum. Mol. Genet
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513:(12): 2387–90.
507:Hum. Mol. Genet
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11:
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1234:
1232:Rotor syndrome
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1100:
1099:
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1091:
1089:ALAD porphyria
1085:
1083:
1072:
1064:erythropoietic
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888:Classification
881:
880:External links
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867:
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809:
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729:BMC Med. Genet
715:
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587:Swiss Med Wkly
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552:(8): 1517–22.
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239:enzyme called
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200:photosensitive
185:hallucinations
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1189:
1188:unconjugated:
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1021:
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1017:
1011:
1010:Rare Diseases
1008:'s Office of
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989:
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797:
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782:(2): 122–30.
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719:
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636:Liver Transpl
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469:
466:(3): 289–90.
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423:(6): 310–20.
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267:chromosome 14
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237:mitochondrial
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68:Endocrinology
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31:
19:
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1104:
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855:cite journal
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818:
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666:
642:(7): 935–8.
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576:
549:
545:
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510:
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463:
459:
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420:
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364:
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309:
305:South Africa
302:
299:Epidemiology
291:
283:
275:
260:
249:
224:
208:
204:pigmentation
193:
191:and stress.
177:constipation
162:
113:
112:
91:difficiency.
1218:conjugated:
776:Clin. Genet
263:nucleotides
38:Other names
1262:Porphyrias
1251:Categories
959:DiseasesDB
460:Hum. Genet
326:References
145:hemoglobin
1177:bilirubin
1069:porphyrin
1055:Porphyria
983:eMedicine
320:Australia
312:Argentina
288:Treatment
280:Diagnosis
226:Mutations
173:diarrhoea
125:porphyria
104:Treatment
63:Specialty
988:derm/450
917:E80.230)
847:34572600
839:12380696
804:38314848
796:12859407
761:18570668
658:15237381
617:33670384
609:16947091
568:10401000
488:27271722
445:40665725
437:10343202
256:autosome
213:Genetics
196:sunlight
189:hormones
181:seizures
169:vomiting
120:, is an
83:Symptoms
1060:hepatic
953:D046350
752:2467414
710:7433635
527:8634714
480:3261272
228:in the
151:in the
942:176200
845:
837:
802:
794:
759:
749:
735:: 54.
708:
679:
656:
615:
607:
566:
525:
486:
478:
443:
435:
377:
352:
318:, and
316:Sweden
273:gene.
149:oxygen
141:organs
133:enzyme
96:Causes
89:Enzyme
70:
964:13738
931:277.1
911:E80.2
843:S2CID
800:S2CID
613:S2CID
484:S2CID
441:S2CID
153:blood
1062:and
1046:Heme
948:MeSH
937:OMIM
926:9-CM
915:ILDS
861:link
835:PMID
792:PMID
757:PMID
706:PMID
677:ISBN
654:PMID
605:PMID
564:PMID
523:PMID
476:PMID
433:PMID
375:ISBN
350:ISBN
233:gene
230:PPOX
175:and
137:heme
129:skin
1006:NIH
1004:at
922:ICD
902:ICD
827:doi
784:doi
747:PMC
737:doi
644:doi
595:doi
591:136
554:doi
515:doi
468:doi
425:doi
396:at
314:,
303:In
271:HFE
1253::
986::
962::
951::
940::
929::
909::
906:10
857:}}
853:{{
841:.
833:.
823:32
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798:.
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780:64
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640:10
638:.
634:.
611:.
603:.
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585:.
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544:.
521:.
509:.
505:.
482:.
474:.
464:79
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439:.
431:.
421:11
419:.
415:.
334:^
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171:,
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198:(
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
