Porphyria Congenital

Congenital porphyria is a rare disease of the central nervous system: neurotransmitter dysfunction. It is one of the types of hyperammonemia.

General information about congenital porphyria

Porphyria is a hereditary metabolic disorder in the human body, which is caused by insufficient synthesis of enzymes that catalyze the reactions of biological utilization of intermediate metabolic products of heme, amino acids and other metabolites. This pathology is also characterized by a violation of vitamin metabolism and a decrease in enzyme activity during the development of its nuclear, skin, and liver forms. In this article I will talk about the causes, symptoms, treatment and prevention of this disease.

Causes of porphyria The causes of this genetic disease can be either inherited or acquired external factors, such as: - Gaucher disease or lipidosis, - polycythemia, - alcohol poisoning and other bad habits,

There is a hereditary factor in the occurrence of this disease, which is associated with a gene mutation in the region of the 13th chromosome. Porphyria is most likely inherited in an autosomal recessive manner. The disease is often polysymptomatic (in the form of a generalized variant with predominant damage to the neuromuscular system) and is not associated with previous alcoholism. The exception is the familial form of the disease, in which there are signs of motor impairment, mainly after intoxication.

According to the literature, in the United States there are 60 families of probands with the same type of manifestation of the disease, that is, individuals of one generation suffered from the manifestation of clinical polymorphism. Noteworthy is the fact that the frequency of the disease was recorded throughout America not only in white and black samples, but among people from Asia, Europe and representatives of Indian communities. Symptoms of Congenital Porphyria Among the general symptoms that the disease primarily indicates are the following ailments: headache, very severe nausea, weakness throughout the body, skin rashes. In addition to skin manifestations, swelling, redness, contusions, and bruises may occur. The person also loses appetite, feels weak, and drowsiness. In especially severe cases, mental activity suffers. Hallucinations occur and nervous instability appears. Over time, this leads to a worsening of the condition, even to the point of mental instability. Now scientists, in turn, identify characteristic symptoms for each type of porphyria. Thus, the neurological form of the disease is most often characterized by headaches, vomiting, loss of appetite, weakness of the body muscles, superstition and photophobia, and the skin form is characterized by rashes and itching. It should be noted that the clinical picture for all types of manifestations of the disease is very extensive. Women often experience disruptions in the menstrual cycle, men often experience erectile dysfunction, and in childhood, along with the above symptoms, aggressive behavior and even epileptic seizures may occur. It is worth noting that there are often cases of asymptomatic disease, when the disease does not reveal itself throughout life. But, nevertheless, those people in whose

Introduction Porphyria is a genetic disease that leads to metabolic disorders in the body. This disease can manifest itself in different forms and is characterized by various symptoms. One form of porphyria is congenital porphyria. It is characterized by a violation of the metabolism of porphyrins - substances necessary for the synthesis of hemoglobin. In this article we will look at congenital porphyria, its symptoms, causes and treatment.

What is porphyria? Porphyria is a disorder of the metabolism of one of the most important components of the blood - heme. Hemoglobin itself, the main protein part of the red blood cell molecule, does not exist without heme hemoglobin - it is hemoglobin that carries oxygen from the heart to the cells of any organ of the body. Therefore, people with porphyria may suffer from shortness of breath, lack of appetite and weakness. The essence of the disorder is the excessive production of porphyrin, an alternative component of hemoglobin, which, when in excess, has a detrimental effect on all organs and tissues of the human body. Therefore, those who are sick usually suffer from symptoms of many diseases - from intestinal and liver diseases to heart disease.