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Variegate porphyria

Variegate porphyria is a type of porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzyme responsible for the seventh step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood. more...

VACTERL association
Van der Woude syndrome
Van Goethem syndrome
Varicella Zoster
Variegate porphyria
Vasovagal syncope
VATER association
Velocardiofacial syndrome
Ventricular septal defect
Viral hemorrhagic fever
Vitamin B12 Deficiency
VLCAD deficiency
Von Gierke disease
Von Hippel-Lindau disease
Von Recklinghausen disease
Von Willebrand disease

Variegate porphyria is a subtype of porphyria.


Many people with this disorder never experience symptoms. When symptoms occur, they can include acute attacks (similar to acute intermittent porphyria), skin damage, or both. Acute attacks usually begin in adulthood and cause abdominal pain, vomiting, diarrhea and constipation. During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations. These signs and symptoms are triggered by nongenetic factors such as certain drugs, dieting or fasting, certain hormones and stress.

Some people with variegate porphyria have skin that is overly sensitive to sunlight. Areas of skin exposed to the sun develop severe blistering, scarring, changes in pigmentation, and increased hair growth. Exposed skin becomes fragile and is easily damaged.

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. In addition to the health problems described above, children with this disorder may have mental retardation and grow more slowly than other children.


This type of porphyria is most common in the white population of South Africa; about 3 per 1,000 people in this population are diagnosed each year. The disorder occurs much less frequently in other parts of the world.


Mutations in the PPOX gene cause variegate porphyria. The PPOX gene makes an enzyme called protoporphyrinogen oxidase, 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 protoporphyrinogen oxidase disrupts heme production and allows byproducts of the process to accumulate in the liver, triggering an acute attack.

Variegate porphyria is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to decrease enzyme activity and cause symptoms. More severe cases result from inheriting two copies of the altered gene.


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Books: Life before porphyria
From Independent, The (London), 9/20/98 by Saul David

George III is best (and rather unfairly) remembered today as the "mad" King who lost America. For much of his reign, it is true, he was derided by Whig aristocrats and Radical reformers alike as a tyrant, while the cartoonists of the day were content to portray him as an eccentric figure whose frugal lifestyle was in direct contrast to that of his dissolute sons. But, as Hibbert makes clear in this excellent study of the King's personal life, there was very much more to George III than popular myth allows.

Born in 1738, George was just 13 when his father, Frederick, Prince of Wales (a man once described by his mother the Queen as "the greatest beast in the whole world"), died of pleurisy after being hit by a tennis ball. Unloved by his crotchety grandfather, George II, it was perhaps inevitable that the young heir-apparent would seek out an alternative father-figure and mentor. His search ended with the third Earl of Bute, a cultured if dour Scot who was said to be the lover of his widowed mother, Princess Augusta. Bute was particularly adept, Hibbert tells us, at keeping George's "daily increasing admiration of the fair sex" in check.

Though the author is not in the habit of engaging in historical debate himself - he sees himself as an "amateur" historian and prefers to leave any in-depth analysis to the "professionals" (ie academics) - he duly notes the popular theory that, at the age of 21, George secretly married and had three children by a young Quaker woman called Hannah Lightfoot. But it is clear where his own sympathies lie when he then quotes a rival historian to the effect that there is no documentary evidence for such a belief. He omits to mention, however, that last year Kenneth Griffith, a film-maker and amateur historian, claimed to have discovered a witness statement to their 1759 marriage in Court of Chancery files (though this claim has yet to be authenticated).

Bute did manage to persuade George to give up all thought of an official marriage to Lady Sarah Lennox, the beautiful daughter of the second Duke of Richmond. Accepting his advice, George declared: "I am born for the happiness or misery of a great nation, and consequently must often act contrary to my passion." Whatever the truth about his relationship with Lightfoot, duty was to be George's watchword for the rest of his life. Hence his marriage, two years after he had succeeded to the throne in 1760, to Princess Sophie Charlotte of Mecklenburg-Strelitz, "a young woman, 17 years old, of no particular talent or striking personality".

Yet Queen Charlotte - as she was known - proved to be an admirable choice. She was devout, extremely fertile - producing 15 children in all, 13 of whom survived into adulthood - and only too happy to embrace her husband's ascetic lifestyle (he rose early, ate sparingly and, in place of wine, drank a lemonade called "cup" that "a monk of La Trappe might have drunk without any infraction of his monastic vow"). Though their initial enthusiasm for each other eventually cooled, their marriage remained a happy one for more than 30 years.

Hibbert is particularly good on the rigid formality of life in the Royal household. "All attendants and even guests were obliged to retire to the nearest wall and stand quite still as soon as any member of the Royal Family appeared in sight," he tells us. "When the King approached one of his daughters' rooms he was preceded by a page." The Princesses were then expected to stand up and to remain silent unless asked a question. Nor were they allowed to leave the room - walking backwards as everyone else did - until they were dismissed with the formal command, "Now I will let you go!"

The chapter covering the King's personal interests and habits is no less fascinating. "He was knowledgeable about botany and agriculture as well as architecture, genealogy, astronomy and horology," writes Hibbert. He "loved fireworks, military bands and uniforms", and "spent hours studying military prints until he could recite the details - as he could recite the names of all the ships in his Navy - by heart". He also took an interest in the three farms that he had created in Windsor Great Park, and often strolled unannounced into the cottages of his farm-workers, "sometimes alarming them at first by his abrupt manner and the way in which he would stand close to them, peering into their faces, but winning them over in the end by his obvious sincerity".

Hibbert excels, not surprisingly, when dealing with subjects covered by his previous books: the origins of the American War of Independence, namely the King's belief that his government had the right to tax the colonists in return for protection (a principle that was held by many intellectuals, including Edward Gibbon, Samuel Johnson and John Wesley); the anti-Catholic Gordon Riots of 1780, which cost 850 lives and only ended when the King issued a proclamation that army officers "could use their own discretion in ordering their men to fire upon rioters"; and the King's turbulent relationship with his eldest son, the future George IV, who was a drunkard, a womaniser and a spendthrift.

And yet, despite the many disappointments of his reign (and partly because of them), George III rose ever higher in the public estimation. "His popularity is very great," wrote Lord Berkeley in 1809, "for the mass of the people look up to his good moral character, and to his age {71}, and to a comparison with his sons."

The following year he finally succumbed to the mental illness -- caused by an hereditary disorder known as variegate porphyria - that had plagued him for the previous 20 years (and thereby ushered in the Regency of his eldest son that lasted until his death in 1820).

In this elegantly written and cleverly constructed book, Hibbert brilliantly succeeds in fleshing out the bones of popular myth by giving us an intriguing portrait of George III the man. If he is to be remembered for anything, it should be for providing the perfect example of a selfless and dutiful monarch.

Copyright 1998 Newspaper Publishing PLC
Provided by ProQuest Information and Learning Company. All rights Reserved.

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