VERIFIED CONTENTAuthor: Dominika Wilk
Cryptopyrroluria is a disorder of heme metabolism, resulting in a deficiency of zinc, vitamin B6 and manganese. As a result of these deficiencies, the functioning of the body is disturbed, which leads, among others, to for chronic fatigue, concentration disorders or drug intolerance. Only specific diagnostics are able to discover this condition and help to apply the appropriate treatment.
Cryptopyrroluria (KPU) affects 10% of the population. It is assumed to be genetic as it usually occurs in members of the same family. Cryptopyrroluria is a disorder of haem metabolism that results in excessive urinary excretion of 2,4-dimethyl-3-ethylpyrrole.
What is cryptopyrroluria?
Normally, heme, which is part of hemoglobin, is metabolized into bilirubin and eliminated in the faeces. In cryptopyrroluria, heme metabolism is disturbed, as a result of which there is an excess of pyrroles (they are the building blocks of the heme), and these are excreted with the urine.
Because pyrroles have the ability to bind to various compounds, incl. zinc, vitamin B6, manganese, although also, for example, with biotin, they cause a deficiency of these ingredients, which are removed from the body with them.
Deficiency of such essential minerals and vitamins leads to disturbances in the functioning of the body and the appearance of many strange symptoms that may be characteristic of other diseases (hence the difficulty in diagnosing KPU and finding its trace).
Symptoms of cryptopyrroluria
There are no single and common symptoms that indicate that someone is suffering from cryptopyrroluria. Due to the increased excretion of zinc, manganese or vitamin B6, various disorders may occur, which will cause various symptoms in patients.
These include, for example, changes in the external appearance, e.g.
- pale skin,
- excessive joint mobility,
- stomach and intestinal complaints,
- increased susceptibility to infections,
- concentration and memory disorders,
- not remembering dreams,
- intolerance to many drugs and chemicals,
- constant fatigue,
- mental problems,
- menstrual disorders,
- constant muscle and joint pain.
They canthey occur together or singly. However, they always lead to the patient's exhaustion, the feeling that he is functioning at the minimum energy level, that something is wrong with the whole body.
Changes to the external appearance
People with cryptopyrroluria often have a pale face with a yellowish sheen. This is mainly due to anemia and elevated bilirubin levels. Anemia, characterized by pale skin, is the result of reduced iron absorption as well as vitamin B6 deficiency. In turn, a yellowish sheen is a sign of liver disorders.
People with KPU are often hypersensitive to the sun's rays and what is characteristic of them - their face does not tan. Other parts of the body are more subject to "normal" tanning, while the facial skin is resistant to it and, above all, hypersensitive to UV radiation, so it must be well protected from the sun.
People with KPU may notice dark circles under the eyes as well as a swollen face, which is often the result of accompanying hypothyroidism.
The skin is distinguished by stretch marks that often occur in non-specific places, e.g. on the back. In addition, there is the weakness of the tooth enamel, which predisposes to more frequent caries attacks.
Muscles and joints
Excessive mobility of joints and muscles is characteristic of adolescence. People with KPU often become dancers and gymnasts, because they can easily bend the body, do splits.
As you age, your joints stiffen and your muscles weaken. The muscles of the arms and torso are especially weak.
Immune system disorders
Due to the deficiency of zinc, which plays a very important role in the immune system, and the deficiency of manganese, which leads to impaired defense functions of the mucous membranes, people with KPU suffer from a weakened immune system.
Therefore, more often than other people they develop infections, pneumonia, have problems with their sinuses and cystitis.
Drug intolerance
Cryptopyrroluria leads to hypersensitivity to many chemicals and drugs. The effect of this is that after taking medications, people with KPU have a number of side effects, which means that their doses must be reduced.
Such patients are able to take, for example, only 1/8 of the drug, otherwise they feel bad. This malaise often occurs after porphyrinogenic drugs such as carbamazepine, diazepam, erythromycin, metoclopramide, oral contraceptives, etc.
Menstrual disorders, disordershormonal
Due to the deficiency of zinc, the fertility of patients may be impaired. In addition, as a result of a deficiency of zinc and vitamin B6, the level of progesterone is reduced, thus increasing the risk of not having a pregnancy.
Deficiency of these ingredients is also associated with more frequent occurrence of premenstrual syndrome, the feeling of swelling of the breasts, feet or hands just before menstruation, as well as lower abdominal pain.
Mental disorders
For the proper functioning of the nervous system, smooth transmission of information between neurons is essential. For this you need, among others B vitamins that ensure the proper functioning of the nervous system.
Vitamin B6 deficiency, characteristic of KPU, causes faster aging of neurons as well as changes in the composition of amino acids in certain regions of the brain. In addition, this vitamin, together with zinc and amino acids, is essential for the production of neurotransmitters such as dopamine and serotonin.
If they are missing, then not only does the mood drop, but also the motivation to act. This is why it is difficult for people with KPU to make the extra effort and feel tired. They also have problems with memory and concentration, and there is a tendency to panic or depression.
Sleep disorders
Vitamin B6 deficiency disturbs the synthesis of tryptophan, which is necessary for the formation of serotonin, which in turn is the source of melatonin - the sleep hormone. No wonder people with KPU suffer from disrupted sleep or insomnia. The most common sleep disorders that affect people with cryptopyrroluria are:
- insomnia, i.e. sleep disorders and sleep continuity,
- hypersomnia, i.e. excessive sleepiness,
- parasomnie - waking up while sleeping
- disturbances in the rhythm of sleep and wakefulness.
Cryptopyrroluria diagnosis
The diagnosis of cryptopyrroluria involves examining a sample of the morning urine. Urine must be put into a special container containing vitamin C, which serves as a stabilizer. 7 days before the test is performed, all medications and supplements containing B vitamins and zinc should be discontinued, as they may distort the test results. The existence of cryptopyrroluria is evidenced by the concentration of cryptopyrrole above 15 µg / dl and the accompanying symptoms (described above).
Additional tests that are performed in the diagnosis of cryptopyrroluria are:
- turkey in urine,
- biogenic amines (blood test) such as: histamine, spermine, spermidine,
- blood tests to determine the level of zinc, manganese, vitamin B6, copper,
- studyimmunoglobulin A,
- fasting glucose and insulin testing,
- fructose intolerance test,
- homocysteine test,
- progesterone level test.
Treatment of cryptopyrroluria
According to Dr. J. Strientz, the treatment of people with KPU consists of three stages:
- Supplementing the deficiencies of micronutrients, in particular zinc, vitamin B6 and manganese
- Treatment of comorbidities
- Mitochondriopathy treatment
Recommendations for supplementation with zinc, vitamin B6 and manganese should be determined individually by a doctor, but usually KPU is treated with quite large doses. Some patients, especially sensitive ones, start with low doses initially and gradually increase their tolerance to the supplements. These types of people are also given vitamins and minerals individually to minimize the risk of side effects. Only after the patient gets used to both the supplement and the increased dose, the full treatment is applied.
Treatment of comorbidities is very important for a complete improvement in the patient's he alth. For example: almost half of people with KPU have histamine disorders. In 40% it is a decreased level of histamine, in 10% it is increased.
Therefore, some people will feel bad after products containing histamine, which will increase malaise, and in the rest - with histamine deficiency, there will be greater sensitivity to pain, increased risk of paranoia or hallucinations, tinnitus, headaches.
Also, hormonal disorders, especially lowering progesterone, as well as hypothyroidism will lead to worse well-being, greater irritability or a tendency to depression, so it is worth compensating for them so that they do not overlap with symptoms related to KPU.
There are people with severe cryptopyrroluria who do not respond to traditional treatment. They have a disturbed mitochondrial function, and taking zinc supplements sometimes worsens their condition. Therefore, they are treated on a very individual basis. So far, supplementation with vitamin B12, omega-3 and omega-6 acids and coenzyme Q10 has been proven to improve the he alth of these people.