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Why study or research Porphyria?

  • Because porphyrins are so interesting and so fundamental. [1]
  • Porphyrins make blood red and grass green. [2,3]

  • Or because you may help to address pain and suffering, prevent neurological damage[4] or potentially fatal & outcomes. [5,6]

The following notes relate to specific fields of study. Our slideshow on Porphyria information may also be of interest.

Fields of Study

Administrators (Hospital), Anaesthesiology, Biochemistry, Biology, Chirality, Community nursing, Environmental studies, Enzymology, Epidemiology, Evolution, Gene therapy, Genetic counselling, General Practice , Geography, Haematology, History, Journalism, Molecular Physiology, Neurology, Neuroscience, Oncology, Paediatrics, Pain therapy, Pharmacology, Physicians, Psychiatry, Veterinary Science, And finally...

Administrators (Hospital):

If haem-arginate[11,12] can save hospital-bed days why is it not used more often in Australia ?

Anaesthesiology:

Twelve hours after an anaesthetic, a patient goes into extreme pain and agitation. It can progress to paralysis sometimes reversible, sometimes leading to death. . . But People with Porphyria need operations too.

Biochemistry:

The red blood cells, erythrocytes, are 8um in diameter and each contains about 280x106 molecules of haemoglobin[13].(Each haem is a protoporphyrin nest with an Iron in the middle)

Biology:

Is it the glucose treatment effect[14](see Physicians) a similar process to the fundamentals of energy synthesis/catabolism in the same way as a plant makes & uses starch?

Chirality:

Are porphyrins involved in the “new carbon dating”? Building porphyrins involves a chain of six, then four make a ring, one doing a flip[15]. (Adding an iron atom for haem or a magnesium atom for chlorophyll[16]).

Community nursing:

Invent a program akin to cardiac coaching to assist people to live with a prevention regime that can be more disciplined than diabetes.

Environmental studies:

Is Porphyria becoming more prevalent as there are more triggers in the environment?[17] Is acquired Porphyria a canary effect[18], and raised porphyrins a toxicity marker[19]?

Enzymology:

Is it possible to find replacement enzymes for the deficient 'synthesases' for all of the Porphyrias?

Epidemiology:

A grandfather who has 60 known descendants - none have been tested, 50% are at risk of Porphyria. With over 200 medication triggers are they in 'clear and present danger'?

Evolution:

Are People with Porphyria the nocturnal of the human species? (Insomnia) Or an adaptation to the Scandinavian twilight? (Severe reactions to light.) Were porphyrins around in primordial times [21]? (chlorophyll 2.8 billion years ago, haemoglobin 400mya)

Gene therapy[22]:

Is Porphyria one of the “easy ones” with a single coding error on one of identified chromosomes (9, 10 or 11)[23] with biochemically measurable benefits? (Is it T to A for Hereditary CoproPorphyria?[24, 25]) But with Acute Intermittent Porphyria “ nearly every family has its own mutation”.[26, 27]]

General Practice:

If the acute porphyrias affect one in 10,000 of the population in the United Kingdom[28] and the French have a 1 in 1700 chance of inheriting the gene for Acute Intermittent Porphyria[29] should an Australian doctor expect to meet a patent with Porphyria at least every few years. Testing for Porphyria is cheaper than a colonoscopy.

Genetic counselling:

Never underestimate the power of denial[30]. Even though 1 in 100 attacks are still fatal and the potential pain is some of the worst known, extended family members decline testing.

Geography:

Read about the founder [33] population of people with Porphyria Variegata in South Africa[35] , DNA attributed to just two fertile Dutch immigrants

Haematology:

Slow video a bruise and hit reverse to see the colours of porphyrin synthesis.

Journalism:

Did the current Queen’s uncle Johnny have seizures from it?[39] Did her father die from Porphyria induced lung failure? And did her sister Margaret have it? Is Charles[40] afraid of it[41]?

Molecular Physiology:

Do the eight different porphyrias make research complicated … or are they built-in effect controls? Which have skin presentations and which have acute crises? What is the role of melanin?

Neurology: [42]

Think of it along with other disorders: Parkinson’s, Guillain Barre[43] , MS [44] … and also Porphyria[45].

Neuroscience:

MRI reveals multiple reversible cerebral lesions in an attack of acute intermittent Porphyria. Both the cerebral clinical abnormalities and the MRI lesions resolved following treatment. [46 , 47]

Oncology:

Injecting tumors with porphyrins and then zapping them with light . . .[48, 49, 50]

Paediatrics:

Is it a myth that most Porphyrias don’t present till puberty?[51] Bactrim and most anti-seizure[52] drugs are triggers. Would it be possible to population-screen for Porphyria in infants? Cost effectively?

Pain therapy:

Episodic, intense and extreme pain, when currently the only safe pain relief is the opioids. Provided an attack of Porphyria is treated effectively the danger of addiction is considered minimal.

Pharmacology:

Temazepam is on the Safe List for Porphyria and Valium on the Unsafe List – the role of molecular shape and cytochrome P450. [57]

Physicians:

Some Porphyrias can be treated with intravenous glucose10%[58], sometimes giving relief within two hours. BSL’s go up at first then drop to normal. How does it work?

Psychiatry:

Tishler [59] and others said Porphyrics were over-represented in psychiatric hospitals … until someone tested a healthy cohort of blood donors . [60]

Veterinary Science:

Apparently cats get Porphyria[61] ,[62]. Do dogs? Mice can be induced porphyric.

And finally:

Urine that can change colour when left in the sun. Faeces[63] or teeth[64], which can glow under UV lamp. Why is the colour purple the worst?