Methemoglobinemia Hereditary Type III

Hereditary methemoglobinemia type III (also known as Eder's methemoglobinemia) is a rare autosomal recessive disorder characterized by elevated levels of methemoglobin in the blood.

Methemoglobin is a form of hemoglobin in which iron is in an oxidized state (Fe3+), making it unable to carry oxygen. Normally, methemoglobin content is less than 1% of total hemoglobin.

The cause of type III methemoglobinemia is mutations in the gene encoding cytochrome b5 reductase, an enzyme that reduces methemoglobin to hemoglobin. Deficiency of this enzyme leads to the accumulation of methemoglobin in red blood cells.

Main symptoms: cyanosis (blueness of the skin and mucous membranes), headache, weakness, shortness of breath, tachycardia. The disease usually manifests in childhood.

Diagnosis is based on detecting elevated levels of methemoglobin. Treatment includes taking antidotes that reduce methemoglobin to hemoglobin, as well as avoiding substances that cause hemoglobin oxidation. The prognosis with timely therapy is favorable.

Methemoglobin is a form of hemoglobin in which iron is bound to one of two oxygen molecules, making it highly unstable and easily susceptible to oxidation. As a result, the methemoglobin enzyme catalyzes a reaction leading to the formation of an excess amount of hydrogen ion (proton). This means that a person has a high level of methemoglobin in the blood, which is toxic to the body.

Methemoglobinumie is a group of different hereditary variants in the formation of hemoglobin. Hypochromic anemia. A group characterized by the formation of red blood cells in the bone marrow that do not contain hemoglobin. Gunther's disease (Gunther's syndrome) Escherich's syndrome. Syn: glucose-6-phosphatase deficiency, glutathione peroxidase deficiency Treatment: based on the principle of replacement therapy. E1. 0. Xeroderma pigmentosum. X-linked disease. Belongs to the group of cytolytic enzymopathies. Lack of the main substance involved in glycolysis. As glucose is absorbed with the development of acid hypoxia due to deficiency of the glycolytic substrate, the cofactor pyridoxal phosphate reacts in the metabolism of tyrosinase. Skin cells experience heavy loads on oxidase (there is a theory about the cause of the heredity of a defect in the enzyme metabolized by alcohol, arsenic, tartrazine and furanyl). The skin acquires increased sensitivity to light - erythema provokes, pain of varying degrees of severity occurs, mainly localized in the lumbar region, accompanied by a feeling of heat. Diagnosis E2. Methemogynammia type I. The disease develops with a deficiency of the heme coenzyme b-globulin. The prognosis is unsatisfactory. Children die before reaching one year of age. A severe course of the disease and a sharp development of hypoxia are observed. They are noticeably behind in development. The diagnosis is made