Re: Kryptopyrroluria/Porphyria

[Guest guest]

Tina

(Unfortunately it's not in English.hee hee)

Apparently 'haem' seen in the abstract is 'heme'

heme- an iron-containing nonprotein portion of the

hemogloblin molecule...

Excerpts:

HPU can be can be described as a stress-induced double deficiency

of pyridoxal-5-phosfate and zinc. In most of the cases a deficiency

of manganese is found as well. It belongs to the porphyrin diseases.

The HPL combines with pyridoxal-5-phosphate to form a stable

base, which is excreted in the urine complexes with zinc or other

minerals like manganese. Pyridoxal-5-phosphate plays an important

role in the formation of niacinamide (sometimes called vitamin B3)

from tryptophan, and also picolinic acid from tryptophan. Zinc is

required for the conversion of pyridoxine to pyridoxal-5-phosphate.

Picolinic acid plays a role in the uptake of minerals like zinc,

chromium, manganese and magnesium. Here an important downward spiral

starts.

The muscle weakness below is interesting:

Symptoms caused by deficiencies of Pyridoxal-5-phosphate and zinc

Much more complaints are however caused by the deficiencies of

pyridoxal-5-phosphate, zinc and manganese. To these complaints belong

also muscle weakness, joint complaints (hypermobility), problems

carbohydrate intolerance, allergy due by a bad protein digestion,

problems around menstrual cycle, pregnancy and childbirth

(miscarriage) (instability of the pelvis), hypoglycaemia or diabetes.

The gluten sensitivity below is interesting:

Symptoms caused by down regulation

Other symptoms are caused by down regulation. These symptoms are

tiredness, hyperactivity/drive, thyroid dysfunction,

headache/migraine, gluten sensitivity, low blood pressure,

infertility, overweight, heart and vascular disease, pituitary

hypofunction and so on.

Marginal medical dictionary for laymen:

http://www.medterms.com/script/main/hp.asp

Another dictionary: (cancer only?)

http://cancerweb.ncl.ac.uk/omd/index.html

Other dictionaries of limited usefulness:

http://www.nlm.nih.gov/medlineplus/mplusdictionary.html

http://medical-dictionary.com/dictionaryresults.php

The Merck Manual of Medical Information-Home Edition:

http://www.merck.com/mrkshared/mmanual_home2/home.jsp

If you REALLY have nothing better to do, this is from

the Merck Manual sited above:

http://www.merck.com/mrkshared/mmanual_home2/sec12/ch160/ch160c.jsp

Excerpt:

All of these symptoms, including the gastrointestinal ones, result

from effects on the nervous system. Nerves that control muscles can

be damaged, leading to weakness, usually beginning in the shoulders

and arms. The weakness can progress to virtually all the muscles,

including those involved in breathing. Tremors and seizures may

develop.

Recovery from symptoms may occur within a few days, although complete

recovery from severe muscle weakness may take several months or

years. Attacks are rarely fatal; however, in a few people, attacks

are disabling.

ENTIRE ARTICLE FROM MERCK IS HERE ALTHOUGH THERE IS MORE

AT THE SITE.CLICK ON SEARCH TO SEARCH FOR WHAT YOU WANT.

Acute Intermittent Porphyria

Acute intermittent porphyria, which causes neurologic symptoms, is

the most common acute porphyria.

Acute intermittent porphyria occurs in people of all races but may be

more common in those from Northern Europe. In most countries, it is

the most common of the acute porphyrias. People first experience

acute intermittent porphyria with acute onset of neurologic symptoms.

Attacks are more common in women than in men.

Acute intermittent porphyria is due to a deficiency of the enzyme

porphobilinogen deaminase (also known as hydroxymethylbilane

synthase) that leads to accumulation of the heme precursors delta-

aminolevulinic acid and porphobilinogen initially in the liver. The

disorder is inherited due to a single abnormal gene from one parent.

The normal gene from the other parent keeps the deficient enzyme at

half-normal levels, which is sufficient to produce normal amounts of

heme. Very rarely, the disease is inherited from both parents (and

therefore two abnormal genes are present); symptoms may then appear

in childhood and include developmental abnormalities.

Most people with a deficiency of porphobilinogen deaminase never

develop symptoms. In some people, however, certain factors--drugs,

hormones, or diet--can precipitate symptoms, producing an attack.

Many drugs (including barbiturates, anticonvulsants, and sulfonamide

antibiotics) can bring on an attack. Hormones, such as progesterone

and related steroids, can precipitate symptoms, as can low-calorie

and low-carbohydrate diets, large amounts of alcohol, or smoking.

Stress resulting from an infection, another illness, surgery, or a

psychologic upset is also sometimes implicated. Usually a combination

of factors is involved. Sometimes the factors that cause an attack

cannot be identified.

Symptoms

Symptoms occur as attacks lasting several days or weeks, and

sometimes even longer. Such attacks usually first appear after

puberty. In some women, attacks develop during the second half of the

menstrual cycle.

Abdominal pain is the most common symptom. The pain can be so severe

that the doctor may mistakenly think that abdominal surgery is

needed. Gastrointestinal symptoms include nausea, vomiting,

constipation or diarrhea, and abdominal bloating. The bladder may be

affected, making urination difficult and sometimes resulting in an

overfull bladder. A rapid heart rate, high blood pressure, sweating,

and restlessness are also common during attacks; interference with

sleep is typical. High blood pressure can continue after the attack.

All of these symptoms, including the gastrointestinal ones, result

from effects on the nervous system. Nerves that control muscles can

be damaged, leading to weakness, usually beginning in the shoulders

and arms. The weakness can progress to virtually all the muscles,

including those involved in breathing. Tremors and seizures may

develop.

Recovery from symptoms may occur within a few days, although complete

recovery from severe muscle weakness may take several months or

years. Attacks are rarely fatal; however, in a few people, attacks

are disabling.

Diagnosis and Prognosis

The severe gastrointestinal and neurologic symptoms resemble those of

many more common disorders. Laboratory tests performed on samples of

urine show increased levels of two heme precursors (delta-

aminolevulinic acid and porphobilinogen). Levels of these precursors

are very high during attacks and remain high in people who have

repeated attacks. The precursors can form porphyrins, which are

reddish in color, and other substances that are brownish. These turn

the urine dark, especially after exposure to light.

Relatives without symptoms can be identified as carriers of the

disorder by measuring porphobilinogen deaminase in red blood cells or

sometimes by DNA testing. Diagnosis before birth is also possible but

usually is not needed because most affected people never get symptoms.

Prevention and Treatment

Attacks of acute intermittent porphyria can be prevented by

maintaining good nutrition and avoiding the drugs that can provoke

them. Crash diets to lose weight rapidly should be avoided. Heme can

be given to prevent attacks. Premenstrual attacks in women can be

prevented with one of the gonadotropin-releasing hormone agonists

used to treat endometriosis (see Section 22, Chapter 245), although

this treatment is still investigational.

People who have attacks of acute intermittent porphyria are often

hospitalized for treatment of severe symptoms. People with severe

attacks are treated with heme given intravenously. Blood and urine

levels of delta-aminolevulinic acid and porphobilinogen are promptly

lowered and symptoms improve, usually within several days. If

treatment is delayed, recovery takes longer, and some nerve damage

may be permanent.

Glucose given intravenously or a diet high in carbohydrates can also

be beneficial, particularly in people whose attacks are brought on by

a low-calorie or low-carbohydrate diet, but these measures are less

effective than heme. Pain can be controlled with drugs (such as

opioids) until the person responds to heme or glucose.

Nausea, vomiting, anxiety, and restlessness are treated with a

phenothiazine for a short time. Insomnia may be treated with chloral

hydrate or low doses of a benzodiazepine but not a barbiturate. An

overfull bladder may be treated by draining the urine with a catheter.

The doctor ensures that the person does not take any of the drugs

known to precipitate an attack, and--if possible--addresses other

factors that may have contributed to the attack. Treatment of

seizures is problematic, because almost any anticonvulsant would

worsen an attack. Beta-blockers may be used to treat rapid heart rate

and high blood pressure but are not used in people who are

dehydrated, in whom a rapid heart rate is needed to maintain the

blood circulation.

Don't you wish you went to medical school?

Szpak

[Guest guest]

>

> Tina

>

> From the website in question:

http://www.hputest.nl/ewhat.htm

Symptoms of porphyria such as abdominal discomfort (belly pains,

constipation, nausea), leg cramps, weakness of the muscles in the

arm, anxiety and agitation, skin complaints that increase during

exposure to the sun are found in HPU to.

More from the Merck Manual:

Erythropoietic Protoporphyria

Erythropoietic protoporphyria is a condition characterized by

photosensitivity.

Erythropoietic protoporphyria is the third most common porphyria. It

occurs most often in whites but can also occur in people of any

origin. Erythropoietic protoporphyria occurs equally in men and women.

In erythropoietic protoporphyria, a deficiency of the enzyme

ferrochelatase leads to accumulation of the heme precursor

protoporphyrin in the bone marrow, red blood cells, blood plasma,

skin, and liver. The enzyme deficiency is usually inherited from one

parent.

Accumulation of protoporphyrin in the skin results in extreme

sensitivity to sunlight. The sunlight activates the protoporphyrin

molecules, which damage the surrounding tissue. Accumulation of

protoporphyrins in the liver can cause liver damage. Protoporphyrins

in the bile can lead to bile stones.

Symptoms and Diagnosis

Symptoms usually start in childhood. Pain and swelling develop soon

after the skin is exposed to sunlight. Because blistering and

scarring seldom occur, doctors do not always recognize the disorder.

Gallstones cause characteristic abdominal pain (see Section 10,

Chapter 140). Liver damage may lead to increasing liver failure, with

jaundice and enlargement of the spleen.

Porphyrin levels in urine are not increased. The diagnosis is

therefore made when increased levels of protoporphyrin are detected

in the plasma and red blood cells.

Prevention and Treatment

Extreme care should be taken to avoid exposure to sunlight.

Accidental sun exposure is given the same treatment as is sunburn

(see Section 18, Chapter 214). Beta-carotene, when taken in

sufficient amounts to cause slight yellowing of the skin, makes many

people more tolerant of sunlight; however, sunlight should still be

avoided. People who develop gallstones that contain protoporphyrin

may need to have them surgically removed. Liver damage, if severe,

may necessitate liver transplantation.

There's going to be a quiz later,

Szpak

[Guest guest]

> >

> > Tina

> >

> > About the website in question:

>

> http://www.hputest.nl/ewhat.htm

It seems that the gist of it is that porphyrin disorders

are corrected by taking zinc and B6, maybe manganese and

other minerals too (?). One of the references is:

" Mental Illness and Schizophrenia " , which relates to

Feed Yourself Right (Dr. Lendon ) on the chapter

Schizophrenia, which I've just looked at.

I guess the " tiredness " " muscle weakness "

" liver problems " could be stuff somehow, in someway, related

to MS, if I'm understanding what's being said at the above

link.

Regards,

Szpak

>

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